Variant report

Variant	esv1799498
Chromosome Location	chr12:120725939-120745740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1753)
CpG islands
(count:1406)
Chromatin interactive
region (count:442)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1753 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120739782-120740559	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:120730653-120731613	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:120739839-120740366	K562	blood:	n/a	n/a
4	ARID3A	chr12:120730499-120731658	K562	blood:	n/a	n/a
5	ARID3A	chr12:120729140-120730175	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:120729143-120730178	K562	blood:	n/a	n/a
7	ATF1	chr12:120729124-120730184	K562	blood:	n/a	chr12:120729937-120729951
8	ATF1	chr12:120739890-120740328	K562	blood:	n/a	n/a
9	ATF1	chr12:120735053-120735248	K562	blood:	n/a	n/a
10	ATF1	chr12:120730535-120731258	K562	blood:	n/a	n/a
11	ATF2	chr12:120728959-120731503	GM12878	blood:	n/a	chr12:120729939-120729950 chr12:120729937-120729951
12	ATF2	chr12:120728999-120731446	H1-hESC	embryonic stem cell:	n/a	chr12:120729939-120729950 chr12:120729937-120729951
13	ATF2	chr12:120730449-120731456	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr12:120729049-120730089	H1-hESC	embryonic stem cell:	n/a	chr12:120729939-120729950 chr12:120729937-120729951
15	ATF2	chr12:120730243-120731462	GM12878	blood:	n/a	n/a
16	ATF2	chr12:120728990-120730226	GM12878	blood:	n/a	chr12:120729939-120729950 chr12:120729937-120729951
17	ATF3	chr12:120730356-120731315	A549	lung:	n/a	n/a
18	ATF3	chr12:120739934-120740202	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr12:120728977-120730201	A549	lung:	n/a	chr12:120729941-120729949 chr12:120729937-120729952 chr12:120729938-120729948 chr12:120729941-120729951 chr12:120729941-120729951 chr12:120729938-120729951 chr12:120729940-120729951 chr12:120729941-120729948 chr12:120729939-120729950 chr12:120729939-120729950 chr12:120729940-120729948
20	ATF3	chr12:120730464-120731216	K562	blood:	n/a	n/a
21	ATF3	chr12:120739852-120740363	A549	lung:	n/a	n/a
22	ATF3	chr12:120729040-120730251	A549	lung:	n/a	chr12:120729941-120729949 chr12:120729937-120729952 chr12:120729938-120729948 chr12:120729941-120729951 chr12:120729941-120729951 chr12:120729938-120729951 chr12:120729940-120729951 chr12:120729941-120729948 chr12:120729939-120729950 chr12:120729939-120729950 chr12:120729940-120729948
23	ATF3	chr12:120730215-120731403	A549	lung:	n/a	n/a
24	ATF3	chr12:120729093-120730182	K562	blood:	n/a	chr12:120729941-120729949 chr12:120729937-120729952 chr12:120729938-120729948 chr12:120729941-120729951 chr12:120729941-120729951 chr12:120729938-120729951 chr12:120729940-120729951 chr12:120729941-120729948 chr12:120729939-120729950 chr12:120729939-120729950 chr12:120729940-120729948
25	ATF3	chr12:120739753-120740553	A549	lung:	n/a	n/a
26	BACH1	chr12:120728588-120730182	K562	blood:	n/a	n/a
27	BACH1	chr12:120740191-120740400	K562	blood:	n/a	n/a
28	BACH1	chr12:120730429-120731320	K562	blood:	n/a	n/a
29	BACH1	chr12:120739966-120740474	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr12:120730556-120731128	GM12878	blood:	n/a	n/a
31	BATF	chr12:120729216-120729732	GM12878	blood:	n/a	n/a
32	BATF	chr12:120730386-120731229	GM12878	blood:	n/a	n/a
33	BATF	chr12:120729114-120729881	GM12878	blood:	n/a	n/a
34	BCL11A	chr12:120730828-120730992	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr12:120729078-120729871	GM12878	blood:	n/a	chr12:120729417-120729426
36	BCL11A	chr12:120730523-120731129	GM12878	blood:	n/a	n/a
37	BCL11A	chr12:120730674-120731115	H1-hESC	embryonic stem cell:	n/a	n/a
38	BCL11A	chr12:120729215-120729842	GM12878	blood:	n/a	chr12:120729417-120729426
39	BCL11A	chr12:120730387-120731181	GM12878	blood:	n/a	n/a
40	BCL11A	chr12:120729244-120729745	H1-hESC	embryonic stem cell:	n/a	chr12:120729417-120729426
41	BCL3	chr12:120739827-120740591	A549	lung:	n/a	chr12:120740312-120740321 chr12:120740313-120740322
42	BCL3	chr12:120728784-120730001	K562	blood:	n/a	chr12:120729417-120729426
43	BCL3	chr12:120730641-120731048	K562	blood:	n/a	n/a
44	BCL3	chr12:120729222-120729857	K562	blood:	n/a	chr12:120729417-120729426
45	BCL3	chr12:120730241-120731458	A549	lung:	n/a	n/a
46	BCL3	chr12:120739841-120740614	A549	lung:	n/a	chr12:120740312-120740321 chr12:120740313-120740322
47	BCL3	chr12:120729128-120729901	GM12878	blood:	n/a	chr12:120729417-120729426
48	BCL3	chr12:120730536-120731132	GM12878	blood:	n/a	n/a
49	BCL3	chr12:120728680-120730235	A549	lung:	n/a	chr12:120729417-120729426
50	BCL3	chr12:120730305-120731284	K562	blood:	n/a	n/a

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120729684-120729734	GM12892	blood:	n/a
2	chr12:120740020-120740070	HepG2	liver:	n/a
3	chr12:120740057-120740107	LNCaP	prostate:	n/a
4	chr12:120729684-120729734	GM12892	blood:	n/a
5	chr12:120740020-120740070	HepG2	liver:	n/a
6	chr12:120740057-120740107	LNCaP	prostate:	n/a
7	chr12:120741614-120741664	SK-N-SH_RA	brain:	n/a
8	chr12:120730932-120730982	HAEpiC	amniotic membrane:	n/a
9	chr12:120740057-120740107	GM12878	blood:	n/a
10	chr12:120731091-120731141	HCT-116	colon:	n/a
11	chr12:120740055-120740105	GM19239	blood:	n/a
12	chr12:120729794-120729844	BJ	skin:	n/a
13	chr12:120741565-120741615	BE2_C	brain:	n/a
14	chr12:120731287-120731337	HepG2	liver:	n/a
15	chr12:120740057-120740107	SK-N-MC	brain:	n/a
16	chr12:120740337-120740387	HCT-116	colon:	n/a
17	chr12:120741565-120741615	NH-A	brain:	n/a
18	chr12:120730932-120730982	GM06990	blood:	n/a
19	chr12:120740050-120740100	U87	brain:	n/a
20	chr12:120729728-120729778	GM12878	blood:	n/a
21	chr12:120731179-120731229	BJ	skin:	n/a
22	chr12:120740055-120740105	PANC-1	pancreas:	n/a
23	chr12:120729817-120729867	SK-N-SH_RA	brain:	n/a
24	chr12:120729728-120729778	SK-N-SH_RA	brain:	n/a
25	chr12:120741653-120741703	HCT-116	colon:	n/a
26	chr12:120729960-120730010	GM12891	blood:	n/a
27	chr12:120741565-120741615	GM12891	blood:	n/a
28	chr12:120731287-120731337	NHDF-neo	bronchial:	n/a
29	chr12:120741653-120741703	MCF-7	breast:	n/a
30	chr12:120740020-120740070	H1-hESC	embryonic stem cell:	embryo
31	chr12:120729794-120729844	HEEpiC	esophagus:	n/a
32	chr12:120729960-120730010	ProgFib	skin:	n/a
33	chr12:120740050-120740100	LNCaP	prostate:	n/a
34	chr12:120730932-120730982	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:120731179-120731229	HIPEpiC	eye:	n/a
36	chr12:120731287-120731337	HRE	kidney:	n/a
37	chr12:120740057-120740107	PFSK-1	brain:	n/a
38	chr12:120731287-120731337	HCM	heart:	n/a
39	chr12:120731287-120731337	GM12892	blood:	n/a
40	chr12:120740010-120740060	Hepatocyte	liver:	n/a
41	chr12:120729960-120730010	NHBE	bronchial:	n/a
42	chr12:120741565-120741615	HRE	kidney:	n/a
43	chr12:120741614-120741664	HMEC	breast:	n/a
44	chr12:120729817-120729867	HMEC	breast:	n/a
45	chr12:120741614-120741664	ProgFib	skin:	n/a
46	chr12:120730932-120730982	HL-60	blood:	n/a
47	chr12:120740050-120740100	AG09319	gingival:	n/a
48	chr12:120740055-120740105	ECC-1	luminal epithelium:	n/a
49	chr12:120740337-120740387	BJ	skin:	n/a
50	chr12:120739679-120739729	AG04450	lung:	fetal

(count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr10:74033562..74034121-chr12:120729571..120730432,2	NB4	blood:
2	chr12:120729487..120730063-chr3:186524422..186524935,2	Hela-S3	cervix:
3	chr12:120728284..120730312-chr12:120764275..120767434,3	K562	blood:
4	chr12:120730583..120731458-chr17:79633579..79634294,2	Hela-S3	cervix:
5	chr12:120729131..120729693-chr2:232571138..232571902,2	Hela-S3	cervix:
6	chr12:120728753..120731049-chr16:89777337..89779489,2	MCF-7	breast:
7	chr12:120598911..120601792-chr12:120728413..120730784,2	MCF-7	breast:
8	chr12:120735730..120737372-chr12:120874827..120877455,2	K562	blood:
9	chr12:120728965..120729870-chr2:10219964..10220899,2	HCT-116	colon:
10	chr12:120728864..120731306-chr17:57914822..57917765,2	MCF-7	breast:
11	chr12:120424699..120427677-chr12:120728453..120732318,6	K562	blood:
12	chr12:120729209..120731364-chr8:145751583..145753528,2	MCF-7	breast:
13	chr12:120729296..120732108-chr20:55839682..55842744,3	MCF-7	breast:
14	chr12:120729280..120729788-chr16:68568996..68569496,2	Hela-S3	cervix:
15	chr12:120730314..120731032-chr19:7548307..7549307,2	Hela-S3	cervix:
16	chr12:120729068..120729653-chr15:67357184..67357755,2	Hela-S3	cervix:
17	chr12:120728048..120731447-chr12:120933331..120935879,5	K562	blood:
18	chr12:120729226..120729925-chr19:51307414..51308024,2	Hela-S3	cervix:
19	chr12:120729023..120729788-chr6:138428189..138428797,2	Hela-S3	cervix:
20	chr12:120729415..120729935-chr5:31532100..31532855,2	Hela-S3	cervix:
21	chr12:120729256..120730135-chr14:75746268..75746938,2	Hela-S3	cervix:
22	chr12:120726494..120729362-chr6:7140099..7142503,2	MCF-7	breast:
23	chr12:120572932..120575709-chr12:120728557..120730432,3	MCF-7	breast:
24	chr12:120728869..120729846-chr20:62168625..62169212,2	Hela-S3	cervix:
25	chr12:120729264..120729802-chr7:82072326..82073265,2	Hela-S3	cervix:
26	chr12:120736972..120739024-chr12:120749620..120752523,2	K562	blood:
27	chr12:120729360..120729973-chr3:160116763..160117263,2	Hela-S3	cervix:
28	chr12:120730532..120731264-chr16:21963901..21964533,2	Hela-S3	cervix:
29	chr12:120729370..120729886-chr5:271669..272321,2	Hela-S3	cervix:
30	chr12:120515699..120519633-chr12:120727984..120732928,6	MCF-7	breast:
31	chr12:120729883..120732315-chr2:43822185..43824876,2	MCF-7	breast:
32	chr12:120729226..120729790-chr3:126373467..126374213,2	Hela-S3	cervix:
33	chr12:120526393..120529140-chr12:120727800..120729347,2	MCF-7	breast:
34	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
35	chr12:120728256..120729969-chr17:59488403..59490292,2	MCF-7	breast:
36	chr12:120732594..120735445-chr12:120753350..120755602,3	K562	blood:
37	chr12:120729331..120729856-chr7:23145100..23145844,2	HCT-116	colon:
38	chr12:120727070..120730888-chr6:30582965..30586622,3	MCF-7	breast:
39	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
40	chr12:120730554..120731274-chr9:34048585..34049109,2	Hela-S3	cervix:
41	chr12:120629007..120630827-chr12:120727538..120729512,2	K562	blood:
42	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
43	chr12:120729513..120730564-chr5:43121264..43122222,3	Hela-S3	cervix:
44	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
45	chr12:120743334..120746581-chr12:120753130..120756677,4	K562	blood:
46	chr12:120730616..120731276-chr2:98281104..98281615,2	NB4	blood:
47	chr12:120728933..120729810-chr7:100209484..100210054,2	Hela-S3	cervix:
48	chr12:120728663..120730480-chr6:157098427..157101174,2	MCF-7	breast:
49	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
50	chr12:120727352..120730920-chr2:70312646..70314864,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-2	chr12:120739773-120739999	expReg_chr12_11414_+

No data

Variant related genes	Relation type
RNU4-1	TF binding region
RNU4-2	TF binding region
SIRT4	TF binding region
RNU4-1	CpG island
RNU4-2	CpG island
SIRT4	CpG island
ENSG00000053501	chromatin interactions
ENSG00000106299	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000120709	chromatin interactions
ENSG00000113300	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000155846	chromatin interactions
ENSG00000204070	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000153956	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000270049	chromatin interactions
ENSG00000117036	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000130707	chromatin interactions
ENSG00000258653	chromatin interactions
ENSG00000143942	chromatin interactions
ENSG00000239881	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000085760	chromatin interactions
ENSG00000086712	chromatin interactions
ENSG00000049618	chromatin interactions
ENSG00000273063	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000100219	chromatin interactions
ENSG00000185633	chromatin interactions
ENSG00000140740	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000145743	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000252659	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000111725	chromatin interactions
ENSG00000115392	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000132570	chromatin interactions
ENSG00000177000	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000116752	chromatin interactions
ENSG00000165501	chromatin interactions
ENSG00000247315	chromatin interactions
ENSG00000266704	chromatin interactions
ENSG00000115137	chromatin interactions
ENSG00000158615	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000272081	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000222750	chromatin interactions
ENSG00000272849	chromatin interactions
ENSG00000140043	chromatin interactions
ENSG00000184402	chromatin interactions
ENSG00000132819	chromatin interactions
ENSG00000124784	chromatin interactions
ENSG00000166965	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000204592	chromatin interactions
ENSG00000213137	chromatin interactions
ENSG00000135913	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000113360	chromatin interactions
ENSG00000272160	chromatin interactions
ENSG00000268230	chromatin interactions
ENSG00000155903	chromatin interactions
ENSG00000140612	chromatin interactions
ENSG00000160087	chromatin interactions
ENSG00000226471	chromatin interactions
ENSG00000221521	chromatin interactions
ENSG00000267395	chromatin interactions
ENSG00000163848	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000213741	chromatin interactions
ENSG00000112624	chromatin interactions
ENSG00000256008	chromatin interactions
ENSG00000243910	chromatin interactions
ENSG00000162191	chromatin interactions
ENSG00000104936	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000200889	chromatin interactions
ENSG00000109062	chromatin interactions
ENSG00000149923	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000130985	chromatin interactions
ENSG00000015133	chromatin interactions
ENSG00000075399	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000185122	chromatin interactions
ENSG00000125534	chromatin interactions
ENSG00000163918	chromatin interactions
ENSG00000267212	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000131023	chromatin interactions
ENSG00000205795	chromatin interactions
ENSG00000249494	chromatin interactions
ENSG00000167747	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000237441	chromatin interactions
ENSG00000109920	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000068885	chromatin interactions
ENSG00000135605	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000105926	chromatin interactions
ENSG00000131153	chromatin interactions
ENSG00000115970	chromatin interactions
ENSG00000151065	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000244291	chromatin interactions
ENSG00000248636	chromatin interactions
ENSG00000132623	chromatin interactions
ENSG00000272114	chromatin interactions
ENSG00000204576	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000164961	chromatin interactions
ENSG00000159176	chromatin interactions
ENSG00000126903	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000179523	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000142227	chromatin interactions
ENSG00000082701	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000267727	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000027847	chromatin interactions
ENSG00000149792	chromatin interactions
ENSG00000149932	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000087086	chromatin interactions
ENSG00000136280	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000111912	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000182795	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000254402	chromatin interactions
ENSG00000145494	chromatin interactions
ENSG00000101213	chromatin interactions
ENSG00000014914	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000227057	chromatin interactions
ENSG00000135241	chromatin interactions
ENSG00000241127	chromatin interactions
ENSG00000104131	chromatin interactions
ENSG00000124782	chromatin interactions
ENSG00000201806	chromatin interactions
ENSG00000171988	chromatin interactions
ENSG00000160182	chromatin interactions
ENSG00000135097	chromatin interactions
ENSG00000157107	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000167272	chromatin interactions
ENSG00000172869	chromatin interactions
ENSG00000073670	chromatin interactions
ENSG00000271843	chromatin interactions
ENSG00000174586	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000138430	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000258056	chromatin interactions
ENSG00000180694	chromatin interactions
ENSG00000127824	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000260919	chromatin interactions
ENSG00000260657	chromatin interactions
ENSG00000199709	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000201184	chromatin interactions
ENSG00000136059	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000177764	chromatin interactions
ENSG00000186312	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000166477	chromatin interactions
ENSG00000111669	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000022840	chromatin interactions
ENSG00000106355	chromatin interactions
ENSG00000160957	chromatin interactions
ENSG00000243678	chromatin interactions
ENSG00000183735	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000269363	chromatin interactions
ENSG00000254806	chromatin interactions
ENSG00000101182	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000163399	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000117906	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000023572	chromatin interactions
ENSG00000184584	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000264052	chromatin interactions
ENSG00000111780	chromatin interactions
ENSG00000179818	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000140320	chromatin interactions
ENSG00000253459	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000266173	chromatin interactions
ENSG00000100299	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000139726	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000163811	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000122550	chromatin interactions
ENSG00000166716	chromatin interactions
ENSG00000182872	chromatin interactions
ENSG00000187514	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000124688	chromatin interactions
ENSG00000256569	chromatin interactions
ENSG00000230415	chromatin interactions
ENSG00000169609	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000137168	chromatin interactions
ENSG00000264624	chromatin interactions
ENSG00000119414	chromatin interactions
ENSG00000198113	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000177189	chromatin interactions
ENSG00000182796	chromatin interactions
ENSG00000122971	chromatin interactions
ENSG00000258496	chromatin interactions
ENSG00000173653	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000259066	chromatin interactions
ENSG00000047315	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000122512	chromatin interactions
ENSG00000204237	chromatin interactions
ENSG00000188693	chromatin interactions
ENSG00000249915	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000187266	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000004487	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000143786	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000232810	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000137880	chromatin interactions
ENSG00000252560	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000181013	chromatin interactions
ENSG00000202339	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000162006	chromatin interactions
ENSG00000230658	chromatin interactions
ENSG00000156469	chromatin interactions
ENSG00000198931	chromatin interactions
ENSG00000223820	chromatin interactions
ENSG00000204220	chromatin interactions
ENSG00000164402	chromatin interactions
ENSG00000219410	chromatin interactions
ENSG00000181789	chromatin interactions
ENSG00000196396	chromatin interactions
ENSG00000147123	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000131495	chromatin interactions
ENSG00000269054	chromatin interactions
ENSG00000139116	chromatin interactions
ENSG00000230454	chromatin interactions
ENSG00000112658	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000008513	chromatin interactions
ENSG00000164304	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000132313	chromatin interactions
ENSG00000201628	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000272686	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000107147	chromatin interactions
ENSG00000161016	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000100243	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000170909	chromatin interactions
ENSG00000154719	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000266680	chromatin interactions
ENSG00000089163	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000242110	chromatin interactions
ENSG00000010017	chromatin interactions
ENSG00000164070	chromatin interactions
ENSG00000153485	chromatin interactions
ENSG00000185298	chromatin interactions
ENSG00000179104	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000169564	chromatin interactions
ENSG00000165943	chromatin interactions
ENSG00000137073	chromatin interactions
ENSG00000103275	chromatin interactions
ENSG00000162923	chromatin interactions
ENSG00000084092	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000088451	chromatin interactions
ENSG00000229474	chromatin interactions
ENSG00000156831	chromatin interactions
ENSG00000158402	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000009954	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000102780	chromatin interactions
ENSG00000224536	chromatin interactions
ENSG00000271899	chromatin interactions
ENSG00000157837	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000204590	chromatin interactions
ENSG00000112378	chromatin interactions
ENSG00000082213	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000138138	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000261373	chromatin interactions
ENSG00000096401	chromatin interactions
ENSG00000265455	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000064995	chromatin interactions
ENSG00000105778	chromatin interactions
ENSG00000166710	chromatin interactions
ENSG00000101146	chromatin interactions
ENSG00000001630	chromatin interactions
ENSG00000203593	chromatin interactions
ENSG00000116514	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000170727	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000197763	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000100241	chromatin interactions
ENSG00000145414	chromatin interactions
ENSG00000230615	chromatin interactions
ENSG00000152904	chromatin interactions
ENSG00000159720	chromatin interactions
ENSG00000158486	chromatin interactions
ENSG00000137767	chromatin interactions
ENSG00000113141	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000240925	chromatin interactions
ENSG00000111707	chromatin interactions
ENSG00000170906	chromatin interactions
ENSG00000141378	chromatin interactions
ENSG00000135392	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000170889	chromatin interactions
ENSG00000170890	chromatin interactions
ENSG00000257341	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000112245	chromatin interactions
ENSG00000156471	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000182648	chromatin interactions
ENSG00000224165	chromatin interactions
ENSG00000213145	chromatin interactions
ENSG00000201164	chromatin interactions
ENSG00000135404	chromatin interactions
ENSG00000222821	chromatin interactions
ENSG00000179862	chromatin interactions
ENSG00000089009	chromatin interactions
ENSG00000127838	chromatin interactions
ENSG00000145912	chromatin interactions
ENSG00000111653	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000105982	chromatin interactions
ENSG00000011021	chromatin interactions
ENSG00000160678	chromatin interactions
ENSG00000189171	chromatin interactions
ENSG00000167733	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000105479	chromatin interactions
ENSG00000148356	chromatin interactions
ENSG00000113810	chromatin interactions
ENSG00000125148	chromatin interactions
ENSG00000232559	chromatin interactions
ENSG00000251889	chromatin interactions
ENSG00000267580	chromatin interactions
ENSG00000261135	chromatin interactions
ENSG00000263913	chromatin interactions
ENSG00000231119	chromatin interactions
ENSG00000170836	chromatin interactions

Extended variants
information (count: 1131 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12297878	chr12:120725939-120725940	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536077929	chr12:120725994-120725995	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs546576175	chr12:120726000-120726001	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs117891934	chr12:120726012-120726013	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs535359930	chr12:120726013-120726014	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs368906943	chr12:120726018-120726019	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs555640190	chr12:120726021-120726022	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs371300651	chr12:120726029-120726030	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs544997775	chr12:120726040-120726041	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs553463308	chr12:120726083-120726084	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs575306132	chr12:120726092-120726093	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs140484839	chr12:120726103-120726104	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs11065070	chr12:120726137-120726138	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs565355019	chr12:120726182-120726183	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs115709572	chr12:120726186-120726187	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs373000504	chr12:120726230-120726231	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs540363412	chr12:120726320-120726321	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs560155465	chr12:120726442-120726443	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs61945843	chr12:120726497-120726498	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs35315260	chr12:120726501-120726502	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs187069092	chr12:120726539-120726540	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs542110033	chr12:120726555-120726556	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs190943805	chr12:120726562-120726563	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs1732855	chr12:120726570-120726571	Weak transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531147212	chr12:120726586-120726587	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs145157423	chr12:120726648-120726649	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs564376581	chr12:120726656-120726657	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs183152865	chr12:120726657-120726658	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs372202596	chr12:120726660-120726661	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs10849740	chr12:120726666-120726667	Weak transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535852082	chr12:120726702-120726703	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs530291341	chr12:120726711-120726712	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs112935919	chr12:120726713-120726714	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs569131572	chr12:120726717-120726718	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs537779213	chr12:120726752-120726753	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs555611600	chr12:120726769-120726770	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs557967408	chr12:120726780-120726781	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs190421265	chr12:120726793-120726794	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs567099498	chr12:120726794-120726795	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs533841742	chr12:120726878-120726879	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs376407061	chr12:120726892-120726893	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs371208347	chr12:120726985-120726986	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs542595295	chr12:120727046-120727047	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs144931808	chr12:120727074-120727075	Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs138747444	chr12:120727085-120727086	Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs544520744	chr12:120727138-120727139	Weak transcription	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs117304628	chr12:120727181-120727182	Weak transcription	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
48	rs551790510	chr12:120727201-120727202	Weak transcription Enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
49	rs533353136	chr12:120727202-120727203	Weak transcription Enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
50	rs540290129	chr12:120727208-120727209	Weak transcription Enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120716800-120728600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:120717400-120728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:120721600-120728600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:120724400-120728400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:120724400-120728400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:120724800-120726400	Enhancers	Placenta	Placenta
7	chr12:120725000-120727800	Weak transcription	A549	lung
8	chr12:120725000-120727800	Weak transcription	HepG2	liver
9	chr12:120725000-120728400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:120725000-120728600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:120725000-120728600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:120725000-120728600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:120725000-120728600	Weak transcription	Fetal Heart	heart
14	chr12:120725000-120728600	Weak transcription	HSMMtube	muscle
15	chr12:120725000-120728600	Weak transcription	NH-A	brain
16	chr12:120725200-120728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:120725200-120728600	Weak transcription	HMEC	breast
18	chr12:120725200-120729800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:120725200-120730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:120725200-120730000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:120725400-120726400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:120725400-120728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:120725400-120728600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:120725600-120726200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:120725600-120728600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:120725600-120728600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:120725600-120728600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:120725600-120728600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:120725600-120728600	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:120725600-120728600	Weak transcription	NHEK	skin
31	chr12:120725600-120728800	Weak transcription	Esophagus	oesophagus
32	chr12:120726200-120728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:120726400-120727800	Weak transcription	Placenta	Placenta
34	chr12:120726400-120728600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:120727200-120727400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:120727200-120728400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:120727200-120728600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:120727400-120728400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:120727400-120728400	Enhancers	K562	blood
40	chr12:120727400-120728400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:120727400-120728600	Enhancers	Primary B cells from cord blood	blood
42	chr12:120727400-120728600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:120727400-120728600	Enhancers	Dnd41	blood
44	chr12:120727600-120727800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:120727600-120727800	Enhancers	Hela-S3	cervix
46	chr12:120727600-120728000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr12:120727600-120729800	Enhancers	Fetal Brain Male	brain
48	chr12:120727800-120728000	Flanking Active TSS	A549	lung
49	chr12:120727800-120728200	Flanking Active TSS	Hela-S3	cervix
50	chr12:120727800-120728400	Enhancers	Primary neutrophils fromperipheralblood	blood

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