Variant report

Variant	nsv1053101
Chromosome Location	chr12:124119155-124172731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:656)
CpG islands
(count:977)
Chromatin interactive
region (count:84)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:124144752-124145277	GM12878	blood:	n/a	n/a
2	ATF2	chr12:124172381-124172960	GM12878	blood:	n/a	n/a
3	ATF2	chr12:124172426-124172866	GM12878	blood:	n/a	n/a
4	ATF2	chr12:124165973-124166596	GM12878	blood:	n/a	n/a
5	ATF2	chr12:124165813-124166609	GM12878	blood:	n/a	n/a
6	BATF	chr12:124172432-124172890	GM12878	blood:	n/a	n/a
7	BATF	chr12:124144904-124145195	GM12878	blood:	n/a	chr12:124145072-124145083
8	BATF	chr12:124166177-124166501	GM12878	blood:	n/a	n/a
9	BATF	chr12:124144875-124145201	GM12878	blood:	n/a	chr12:124145072-124145083
10	BATF	chr12:124166147-124166490	GM12878	blood:	n/a	n/a
11	BATF	chr12:124172484-124172812	GM12878	blood:	n/a	n/a
12	BCL11A	chr12:124172504-124172853	GM12878	blood:	n/a	n/a
13	BCL11A	chr12:124166091-124166461	GM12878	blood:	n/a	n/a
14	BCL11A	chr12:124172540-124172846	GM12878	blood:	n/a	n/a
15	BCLAF1	chr12:124166045-124166526	GM12878	blood:	n/a	n/a
16	BCLAF1	chr12:124172411-124172914	GM12878	blood:	n/a	n/a
17	BCLAF1	chr12:124139925-124140367	GM12878	blood:	n/a	n/a
18	BHLHE40	chr12:124139600-124140393	GM12878	blood:	n/a	n/a
19	BHLHE40	chr12:124155699-124155729	K562	blood:	n/a	n/a
20	BHLHE40	chr12:124166226-124166361	GM12878	blood:	n/a	n/a
21	BHLHE40	chr12:124146182-124146377	GM12878	blood:	n/a	n/a
22	BHLHE40	chr12:124172483-124172783	GM12878	blood:	n/a	n/a
23	BRCA1	chr12:124133994-124134134	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr12:124147878-124148212	K562	blood:	n/a	n/a
25	CEBPB	chr12:124118924-124119239	K562	blood:	n/a	n/a
26	CEBPB	chr12:124166289-124166474	K562	blood:	n/a	chr12:124166370-124166381
27	CEBPB	chr12:124118929-124119266	A549	lung:	n/a	n/a
28	CEBPB	chr12:124166212-124166455	A549	lung:	n/a	chr12:124166370-124166381
29	CEBPB	chr12:124155348-124155869	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr12:124144926-124145288	MCF-7	breast:	n/a	n/a
31	CEBPB	chr12:124144941-124145298	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr12:124155414-124155714	HepG2	liver:	n/a	n/a
33	CEBPB	chr12:124172369-124173000	GM12878	blood:	n/a	n/a
34	CEBPB	chr12:124166279-124166491	IMR90	lung:	n/a	chr12:124166370-124166381
35	CEBPB	chr12:124163947-124163977	HepG2	liver:	n/a	chr12:124163964-124163975
36	CEBPB	chr12:124146622-124146730	HepG2	liver:	n/a	chr12:124146632-124146643
37	CEBPB	chr12:124144964-124145165	K562	blood:	n/a	n/a
38	CEBPB	chr12:124155361-124155613	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr12:124146558-124146645	K562	blood:	n/a	chr12:124146632-124146643
40	CEBPB	chr12:124144969-124145294	K562	blood:	n/a	n/a
41	CEBPB	chr12:124166291-124166506	HepG2	liver:	n/a	chr12:124166370-124166381
42	CEBPB	chr12:124146435-124146820	MCF-7	breast:	n/a	chr12:124146632-124146643
43	CEBPB	chr12:124144946-124145307	A549	lung:	n/a	n/a
44	CEBPB	chr12:124155498-124155638	K562	blood:	n/a	n/a
45	CEBPB	chr12:124163883-124164027	K562	blood:	n/a	chr12:124163964-124163975
46	CEBPB	chr12:124144925-124145317	IMR90	lung:	n/a	n/a
47	CEBPB	chr12:124118928-124119176	HepG2	liver:	n/a	n/a
48	CEBPB	chr12:124144822-124145387	A549	lung:	n/a	n/a
49	CHD2	chr12:124155480-124155761	K562	blood:	n/a	n/a
50	CHD2	chr12:124155426-124155905	Hela-S3	cervix:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124145110-124145160	IMR90	lung:	fetal
2	chr12:124145110-124145160	IMR90	lung:	fetal
3	chr12:124119250-124119300	HUVEC	blood vessel:	n/a
4	chr12:124155620-124155670	Caco-2	colon:	n/a
5	chr12:124155594-124155644	AG04450	lung:	fetal
6	chr12:124158499-124158549	BE2_C	brain:	n/a
7	chr12:124155458-124155508	HAEpiC	amniotic membrane:	n/a
8	chr12:124119657-124119707	SK-N-MC	brain:	n/a
9	chr12:124155594-124155644	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:124156159-124156209	Hela-S3	cervix:	n/a
11	chr12:124144432-124144482	RPTEC	kidney:	n/a
12	chr12:124119657-124119707	CMK	blood:	n/a
13	chr12:124156159-124156209	HUVEC	blood vessel:	n/a
14	chr12:124121050-124121100	NHBE	bronchial:	n/a
15	chr12:124155579-124155629	Hepatocyte	liver:	n/a
16	chr12:124154378-124154428	HepG2	liver:	n/a
17	chr12:124155458-124155508	AG10803	skin:	n/a
18	chr12:124155458-124155508	HEK293	kidney:	embryo
19	chr12:124121050-124121100	GM06990	blood:	n/a
20	chr12:124155880-124155930	SAEC	small airway:	n/a
21	chr12:124155880-124155930	HRCEpiC	kidney:	n/a
22	chr12:124155620-124155670	Jurkat	blood:	n/a
23	chr12:124155880-124155930	IMR90	lung:	fetal
24	chr12:124155451-124155501	ovcar-3	ovarian:	n/a
25	chr12:124154378-124154428	NH-A	brain:	n/a
26	chr12:124158499-124158549	ProgFib	skin:	n/a
27	chr12:124155594-124155644	PFSK-1	brain:	n/a
28	chr12:124155579-124155629	HEEpiC	esophagus:	n/a
29	chr12:124156170-124156220	SAEC	small airway:	n/a
30	chr12:124155594-124155644	BE2_C	brain:	n/a
31	chr12:124121050-124121100	K562	blood:	n/a
32	chr12:124156170-124156220	ECC-1	luminal epithelium:	n/a
33	chr12:124119250-124119300	ProgFib	skin:	n/a
34	chr12:124155579-124155629	HIPEpiC	eye:	n/a
35	chr12:124156170-124156220	HEEpiC	esophagus:	n/a
36	chr12:124119657-124119707	BE2_C	brain:	n/a
37	chr12:124155620-124155670	HCM	heart:	n/a
38	chr12:124155451-124155501	NHDF-neo	bronchial:	n/a
39	chr12:124156170-124156220	AoSMC	blood vessel:	n/a
40	chr12:124154378-124154428	H1-hESC	embryonic stem cell:	embryo
41	chr12:124155620-124155670	IMR90	lung:	fetal
42	chr12:124145110-124145160	ECC-1	luminal epithelium:	n/a
43	chr12:124121050-124121100	HMEC	breast:	n/a
44	chr12:124158499-124158549	H1-hESC	embryonic stem cell:	embryo
45	chr12:124155594-124155644	MCF-7	breast:	n/a
46	chr12:124154378-124154428	GM12892	blood:	n/a
47	chr12:124145110-124145160	GM06990	blood:	n/a
48	chr12:124145110-124145160	BE2_C	brain:	n/a
49	chr12:124156159-124156209	Hepatocyte	liver:	n/a
50	chr12:124121050-124121100	HRCEpiC	kidney:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:124130618..124132144-chr12:124154341..124156246,2	MCF-7	breast:
2	chr12:124117712..124121219-chr12:124140785..124143591,3	K562	blood:
3	chr12:124120301..124122353-chr12:124128299..124130201,3	K562	blood:
4	chr12:124105734..124108451-chr12:124133249..124135719,2	K562	blood:
5	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
6	chr12:124120301..124122353-chr12:124128299..124130201,3	K562	blood:
7	chr12:124131124..124134135-chr12:124154416..124157411,3	K562	blood:
8	chr12:124131124..124134135-chr12:124154416..124157411,3	K562	blood:
9	chr12:124128608..124131370-chr12:124135245..124137740,4	K562	blood:
10	chr12:124127308..124129753-chr12:124158031..124160799,2	K562	blood:
11	chr12:124172137..124174302-chr12:124194954..124197751,2	MCF-7	breast:
12	chr12:124138422..124140008-chr12:124142075..124144430,2	MCF-7	breast:
13	chr12:124117920..124120001-chr12:124129132..124130798,2	MCF-7	breast:
14	chr12:124154048..124155942-chr12:124162322..124165220,2	K562	blood:
15	chr12:123866683..123868660-chr12:124118535..124120956,2	K562	blood:
16	chr12:124119318..124121767-chr12:124194183..124197056,2	MCF-7	breast:
17	chr12:124118193..124121025-chr12:124132767..124136539,4	MCF-7	breast:
18	chr12:124134030..124137334-chr12:124197093..124199913,4	MCF-7	breast:
19	chr12:124130507..124132191-chr12:124132895..124134450,2	MCF-7	breast:
20	chr12:124137919..124140915-chr12:124140949..124142983,2	MCF-7	breast:
21	chr12:124116825..124119400-chr12:124154444..124157055,3	MCF-7	breast:
22	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
23	chr12:124141910..124144216-chr12:124195360..124197441,2	MCF-7	breast:
24	chr12:124143980..124146532-chr12:124155769..124157495,2	MCF-7	breast:
25	chr12:123875063..123876805-chr12:124118427..124120711,2	K562	blood:
26	chr12:124125615..124128872-chr12:124133075..124135751,3	MCF-7	breast:
27	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
28	chr1:183896810..183898310-chr12:124119036..124121731,2	K562	blood:
29	chr12:124117633..124119272-chr12:124133499..124136176,2	K562	blood:
30	chr12:124150219..124152252-chr12:124155815..124157987,2	MCF-7	breast:
31	chr12:124155376..124157580-chr12:124194948..124197481,2	K562	blood:
32	chr12:124157626..124159857-chr12:124196461..124198464,2	MCF-7	breast:
33	chr12:124157620..124159905-chr12:124196914..124199226,2	K562	blood:
34	chr12:124127308..124129753-chr12:124158031..124160799,2	K562	blood:
35	chr12:124123949..124126710-chr12:124128875..124131426,2	K562	blood:
36	chr12:124130507..124132191-chr12:124132895..124134450,2	MCF-7	breast:
37	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
38	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
39	chr12:124157962..124160129-chr12:124161284..124163771,2	MCF-7	breast:
40	chr12:124117633..124120865-chr12:124133499..124139438,5	K562	blood:
41	chr12:124086664..124088557-chr12:124117448..124120033,4	K562	blood:
42	chr12:124150313..124152080-chr12:124154611..124157419,2	MCF-7	breast:
43	chr12:124155436..124158746-chr12:124195101..124198299,4	MCF-7	breast:
44	chr12:124084914..124087862-chr12:124122413..124125179,2	K562	blood:
45	chr12:123847883..123849879-chr12:124118467..124120545,3	K562	blood:
46	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
47	chr12:124118155..124119851-chr12:124120256..124121890,2	MCF-7	breast:
48	chr12:123755242..123756973-chr12:124144725..124146660,2	K562	blood:
49	chr12:124154972..124157295-chr12:124158575..124161176,3	K562	blood:
50	chr12:124117612..124120056-chr12:124127858..124130457,4	K562	blood:

No data

Variant related genes	Relation type
EIF2B1	TF binding region
GTF2H3	TF binding region
TCTN2	TF binding region
EIF2B1	CpG island
GTF2H3	CpG island
TCTN2	CpG island
ENSG00000119242	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000270095	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000168778	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000178882	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000111361	chromatin interactions

Extended variants
information (count: 2125 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2125 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6488885	chr12:124119155-124119156	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs71458810	chr12:124119216-124119217	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs550098893	chr12:124119283-124119284	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs11572915	chr12:124119309-124119310	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73416238	chr12:124119331-124119332	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182990266	chr12:124119339-124119340	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs11572916	chr12:124119388-124119389	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187709760	chr12:124119390-124119391	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs11572917	chr12:124119393-124119394	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs557478369	chr12:124119396-124119397	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs576029061	chr12:124119498-124119499	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs75943952	chr12:124119499-124119500	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs139747478	chr12:124119540-124119541	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs74931968	chr12:124119562-124119563	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs553564589	chr12:124119597-124119598	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs571439431	chr12:124119656-124119657	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs377473603	chr12:124119658-124119659	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs559376433	chr12:124119709-124119710	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs533262654	chr12:124119714-124119715	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs371072791	chr12:124119725-124119726	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs563533107	chr12:124119729-124119730	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs114412204	chr12:124119783-124119784	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs373270442	chr12:124119803-124119804	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs11572918	chr12:124119889-124119890	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145792682	chr12:124119890-124119891	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs568357669	chr12:124119896-124119897	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs529068487	chr12:124119916-124119917	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs11572919	chr12:124119938-124119939	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192371807	chr12:124119946-124119947	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs545172017	chr12:124119976-124119977	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs11572920	chr12:124119983-124119984	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs575539318	chr12:124120014-124120015	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs557880611	chr12:124120026-124120027	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs569535840	chr12:124120085-124120086	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs544640310	chr12:124120098-124120099	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs555757949	chr12:124120115-124120116	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs573999387	chr12:124120117-124120118	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs370227888	chr12:124120120-124120121	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs541189677	chr12:124120145-124120146	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs553143605	chr12:124120147-124120148	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs577866724	chr12:124120159-124120160	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs545153461	chr12:124120165-124120166	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs6488886	chr12:124120205-124120206	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11572921	chr12:124120212-124120213	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543028190	chr12:124120227-124120228	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs561916456	chr12:124120239-124120240	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs201211573	chr12:124120240-124120241	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs141104697	chr12:124120351-124120352	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs547754168	chr12:124120507-124120508	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs116368893	chr12:124120527-124120528	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2184 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124116800-124119200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124116800-124119200	Active TSS	K562	blood
3	chr12:124117200-124119200	Active TSS	A549	lung
4	chr12:124117200-124119200	Active TSS	GM12878-XiMat	blood
5	chr12:124117400-124119200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr12:124117400-124119200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:124117400-124119200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:124117400-124119200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:124117400-124119200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:124117400-124119200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr12:124117400-124119200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:124117400-124119400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:124117400-124119600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:124117400-124119800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:124117600-124119200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:124117600-124119200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:124117600-124119200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:124117600-124119200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:124117600-124119200	Active TSS	Ovary	ovary
20	chr12:124117600-124119200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:124117600-124119400	Active TSS	Gastric	stomach
22	chr12:124117800-124119200	Active TSS	NHDF-Ad	bronchial
23	chr12:124117800-124119200	Active TSS	NHEK	skin
24	chr12:124117800-124119400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:124118400-124119200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:124118400-124119200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr12:124118400-124119200	Flanking Active TSS	Liver	Liver
28	chr12:124118400-124119400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:124118400-124119800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:124118600-124119200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr12:124118600-124119200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:124118600-124119200	Flanking Active TSS	Fetal Thymus	thymus
33	chr12:124118600-124119400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr12:124118600-124119400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:124118600-124119400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr12:124118600-124119400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr12:124118600-124119600	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr12:124118600-124119800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:124118800-124119200	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr12:124118800-124119200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:124118800-124119200	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr12:124118800-124119200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr12:124118800-124119200	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr12:124118800-124119200	Flanking Active TSS	Placenta	Placenta
45	chr12:124118800-124119200	Flanking Active TSS	Fetal Stomach	stomach
46	chr12:124118800-124119200	Flanking Active TSS	Right Ventricle	heart
47	chr12:124118800-124119200	Flanking Active TSS	Thymus	Thymus
48	chr12:124118800-124119400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:124118800-124119400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr12:124118800-124119400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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