Variant report

Variant	esv3363236
Chromosome Location	chr12:122240069-122243467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:833)
CpG islands
(count:1160)
Chromatin interactive
region (count:59)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122240198-122241431	K562	blood:	n/a	n/a
2	ARID3A	chr12:122240625-122241366	HepG2	liver:	n/a	n/a
3	ATF2	chr12:122238747-122241161	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr12:122241028-122241507	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:122239728-122240247	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:122240497-122241321	GM12878	blood:	n/a	n/a
7	ATF2	chr12:122239528-122241264	GM12878	blood:	n/a	n/a
8	ATF2	chr12:122239216-122240166	GM12878	blood:	n/a	n/a
9	ATF2	chr12:122240444-122240951	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr12:122240475-122241533	A549	lung:	n/a	n/a
11	BACH1	chr12:122240468-122240877	K562	blood:	n/a	n/a
12	BACH1	chr12:122243372-122243432	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr12:122238787-122241287	A549	lung:	n/a	chr12:122239344-122239357 chr12:122238974-122238987
14	BCL3	chr12:122240437-122241597	A549	lung:	n/a	n/a
15	BCL3	chr12:122238666-122240120	A549	lung:	n/a	chr12:122239344-122239357 chr12:122238974-122238987
16	BCLAF1	chr12:122238757-122240393	GM12878	blood:	n/a	chr12:122239344-122239357 chr12:122238974-122238987
17	BCLAF1	chr12:122239437-122241389	GM12878	blood:	n/a	n/a
18	BCLAF1	chr12:122240402-122241493	GM12878	blood:	n/a	n/a
19	BHLHE40	chr12:122240677-122241451	K562	blood:	n/a	n/a
20	BHLHE40	chr12:122241868-122241937	GM12878	blood:	n/a	n/a
21	BHLHE40	chr12:122240629-122241426	GM12878	blood:	n/a	n/a
22	BHLHE40	chr12:122241233-122241315	A549	lung:	n/a	n/a
23	BHLHE40	chr12:122240102-122240265	K562	blood:	n/a	n/a
24	BHLHE40	chr12:122242527-122242709	GM12878	blood:	n/a	n/a
25	BRCA1	chr12:122240695-122241159	HepG2	liver:	n/a	n/a
26	BRCA1	chr12:122240579-122241295	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr12:122240655-122241342	GM12878	blood:	n/a	n/a
28	BRCA1	chr12:122240544-122241196	H1-hESC	embryonic stem cell:	n/a	n/a
29	CBX3	chr12:122240541-122241544	K562	blood:	n/a	n/a
30	CCNT2	chr12:122240707-122242984	K562	blood:	n/a	chr12:122242533-122242542 chr12:122241655-122241664 chr12:122241758-122241767 chr12:122242926-122242935 chr12:122241677-122241686
31	CEBPB	chr12:122239763-122241025	K562	blood:	n/a	n/a
32	CEBPB	chr12:122239457-122241334	GM12878	blood:	n/a	n/a
33	CEBPD	chr12:122240504-122241461	K562	blood:	n/a	n/a
34	CEBPD	chr12:122240432-122241655	K562	blood:	n/a	n/a
35	CEBPD	chr12:122240749-122241568	HepG2	liver:	n/a	n/a
36	CEBPD	chr12:122242441-122242908	HepG2	liver:	n/a	n/a
37	CHD1	chr12:122237832-122241481	H1-hESC	embryonic stem cell:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
38	CHD1	chr12:122237651-122241677	IMR90	lung:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
39	CHD1	chr12:122237669-122241524	GM12878	blood:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
40	CHD1	chr12:122242673-122242740	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr12:122241778-122241981	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr12:122241772-122243784	IMR90	lung:	n/a	n/a
43	CHD1	chr12:122243234-122243484	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr12:122241824-122242156	GM12878	blood:	n/a	n/a
45	CHD1	chr12:122243326-122243389	GM12878	blood:	n/a	n/a
46	CHD1	chr12:122242499-122242886	GM12878	blood:	n/a	n/a
47	CHD2	chr12:122241802-122242008	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr12:122240652-122241565	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr12:122240574-122241348	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr12:122243381-122243472	GM12878	blood:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122242517-122242567	SK-N-SH_RA	brain:	n/a
2	chr12:122242517-122242567	SK-N-SH_RA	brain:	n/a
3	chr12:122242586-122242636	HEEpiC	esophagus:	n/a
4	chr12:122243328-122243378	GM12891	blood:	n/a
5	chr12:122241461-122241511	T-47D	breast:	n/a
6	chr12:122241402-122241452	AG09309	skin:	n/a
7	chr12:122242517-122242567	U87	brain:	n/a
8	chr12:122240872-122240922	HCM	heart:	n/a
9	chr12:122241461-122241511	NHDF-neo	bronchial:	n/a
10	chr12:122241139-122241189	CMK	blood:	n/a
11	chr12:122241952-122242002	SKMC	muscle:	n/a
12	chr12:122242586-122242636	HL-60	blood:	n/a
13	chr12:122241461-122241511	Hepatocyte	liver:	n/a
14	chr12:122242600-122242650	HL-60	blood:	n/a
15	chr12:122242600-122242650	HCT-116	colon:	n/a
16	chr12:122243328-122243378	ECC-1	luminal epithelium:	n/a
17	chr12:122242921-122242971	Hela-S3	cervix:	n/a
18	chr12:122241461-122241511	IMR90	lung:	fetal
19	chr12:122242921-122242971	Jurkat	blood:	n/a
20	chr12:122241475-122241525	AG04450	lung:	fetal
21	chr12:122241475-122241525	CMK	blood:	n/a
22	chr12:122240872-122240922	BE2_C	brain:	n/a
23	chr12:122243328-122243378	HAEpiC	amniotic membrane:	n/a
24	chr12:122243328-122243378	SK-N-SH	brain:	n/a
25	chr12:122242586-122242636	HRCEpiC	kidney:	n/a
26	chr12:122242600-122242650	HEEpiC	esophagus:	n/a
27	chr12:122242600-122242650	RPTEC	kidney:	n/a
28	chr12:122241139-122241189	PFSK-1	brain:	n/a
29	chr12:122242589-122242639	HCT-116	colon:	n/a
30	chr12:122241139-122241189	SKMC	muscle:	n/a
31	chr12:122241461-122241511	LNCaP	prostate:	n/a
32	chr12:122241952-122242002	HRCEpiC	kidney:	n/a
33	chr12:122242606-122242656	HRPEpiC	eye:	n/a
34	chr12:122242600-122242650	HEK293	kidney:	embryo
35	chr12:122242756-122242806	HRCEpiC	kidney:	n/a
36	chr12:122241438-122241488	CMK	blood:	n/a
37	chr12:122241402-122241452	AG10803	skin:	n/a
38	chr12:122242145-122242195	HEK293	kidney:	embryo
39	chr12:122242756-122242806	HMEC	breast:	n/a
40	chr12:122241422-122241472	NHBE	bronchial:	n/a
41	chr12:122241409-122241459	SK-N-SH_RA	brain:	n/a
42	chr12:122240872-122240922	HIPEpiC	eye:	n/a
43	chr12:122241475-122241525	HL-60	blood:	n/a
44	chr12:122241461-122241511	HRCEpiC	kidney:	n/a
45	chr12:122242921-122242971	ECC-1	luminal epithelium:	n/a
46	chr12:122243328-122243378	T-47D	breast:	n/a
47	chr12:122241402-122241452	U87	brain:	n/a
48	chr12:122242589-122242639	HEK293	kidney:	embryo
49	chr12:122241438-122241488	HAEpiC	amniotic membrane:	n/a
50	chr12:122241952-122242002	SAEC	small airway:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:121788398..121791185-chr12:122239854..122241359,2	MCF-7	breast:
2	chr12:122237524..122241121-chr12:122501436..122503777,3	K562	blood:
3	chr12:122240911..122241575-chr15:77363083..77363808,2	NB4	blood:
4	chr12:121975169..121976051-chr12:122240783..122241487,2	NB4	blood:
5	chr12:122238851..122241051-chr8:145148871..145151481,2	MCF-7	breast:
6	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
7	chr12:122239058..122240920-chr2:174827719..174830077,2	MCF-7	breast:
8	chr1:154377729..154378301-chr12:122239727..122240639,2	Hela-S3	cervix:
9	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
10	chr11:118965715..118967362-chr12:122238172..122240482,2	MCF-7	breast:
11	chr12:122240438..122241162-chr7:100183249..100183778,2	Hela-S3	cervix:
12	chr12:122238688..122240991-chr6:27775066..27777926,2	MCF-7	breast:
13	chr12:122063273..122066310-chr12:122238266..122240909,4	MCF-7	breast:
14	chr12:6493661..6494494-chr12:122240808..122241379,2	Hela-S3	cervix:
15	chr12:122239996..122242315-chr12:122299933..122302886,2	MCF-7	breast:
16	chr12:122240257..122240757-chr2:219433288..219433851,2	Hela-S3	cervix:
17	chr12:122240439..122241160-chr19:531479..532047,2	Hela-S3	cervix:
18	chr12:122240395..122241119-chr16:75589970..75590470,2	NB4	blood:
19	chr12:122239660..122241230-chr12:122355073..122357147,2	MCF-7	breast:
20	chr12:122149069..122151072-chr12:122242291..122244324,2	MCF-7	breast:
21	chr12:122238079..122240131-chr17:59487111..59490038,2	MCF-7	breast:
22	chr12:122241012..122243645-chr12:122353946..122355842,2	MCF-7	breast:
23	chr12:122240319..122241148-chr7:44836026..44836677,2	NB4	blood:
24	chr11:93465842..93466508-chr12:122240389..122241107,2	NB4	blood:
25	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
26	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
27	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
28	chr12:122241439..122242032-chr19:2475682..2476352,2	Hela-S3	cervix:
29	chr12:122237332..122242839-chr17:57920693..57925352,4	MCF-7	breast:
30	chr12:122240766..122242888-chr17:59476165..59478324,2	MCF-7	breast:
31	chr12:122239215..122242374-chr17:57923941..57927406,3	MCF-7	breast:
32	chr12:122062685..122065398-chr12:122241584..122243179,2	MCF-7	breast:
33	chr12:122238420..122240403-chr5:140026745..140028353,2	MCF-7	breast:
34	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
35	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
36	chr12:122240321..122240932-chr9:138392556..138393555,2	Hela-S3	cervix:
37	chr12:53341228..53343679-chr12:122240753..122243442,2	MCF-7	breast:
38	chr12:122240246..122240932-chrX:153059052..153059872,2	NB4	blood:
39	chr12:122018588..122021080-chr12:122238013..122240517,2	MCF-7	breast:
40	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
41	chr12:122240075..122242240-chr15:93426091..93428308,2	K562	blood:
42	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
43	chr12:122240927..122243222-chr6:27775692..27777449,2	MCF-7	breast:
44	chr12:122241026..122243237-chr12:122983167..122985698,2	K562	blood:
45	chr12:122240596..122241191-chr8:54755297..54756198,2	HCT-116	colon:
46	chr12:122240859..122242424-chr12:122459366..122461446,2	K562	blood:
47	chr12:122238900..122240438-chr6:136610251..136612271,2	MCF-7	breast:
48	chr12:122240711..122241221-chr16:2033983..2034692,2	Hela-S3	cervix:
49	chr12:121837219..121839609-chr12:122238728..122241051,2	MCF-7	breast:
50	chr12:122240345..122240923-chr2:20646672..20647394,2	Hela-S3	cervix:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOF-1	chr12:122240537-122240690	ENSG00000212694.4
2	lnc-RHOF-1	chr12:122240785-122240851	ENSG00000212694.4
3	lnc-RHOF-1	chr12:122240537-122240690	NONHSAT031462
4	lnc-RHOF-1	chr12:122240785-122240816	ENSG00000212694.4
5	lnc-RHOF-1	chr12:122240537-122240849	ENSG00000212694.4
6	lnc-RHOF-1	chr12:122241113-122241155	ENSG00000212694.4
7	lnc-RHOF-1	chr12:122240537-122240712	ENSG00000212694.4
8	lnc-RHOF-1	chr12:122240785-122241674	NONHSAT031462
9	lnc-RHOF-1	chr12:122240781-122240821	NONHSAT031457
10	lnc-RHOF-1	chr12:122239613-122240510	ENSG00000212694.4
11	lnc-RHOF-1	chr12:122240537-122241680	NONHSAT031455
12	lnc-RHOF-1	chr12:122240785-122240839	ENSG00000212694.4
13	lnc-RHOF-1	chr12:122240537-122240690	ENSG00000212694.4
14	lnc-RHOF-1	chr12:122240785-122241016	NONHSAT031461
15	lnc-RHOF-1	chr12:122240537-122240870	NONHSAT031446
16	lnc-RHOF-1	chr12:122240537-122240852	ENSG00000212694.4
17	lnc-RHOF-1	chr12:122241436-122241812	ENSG00000212694.4
18	lnc-RHOF-1	chr12:122240537-122240690	NONHSAT031457
19	lnc-RHOF-1	chr12:122240537-122240792	ENSG00000212694.4
20	lnc-RHOF-1	chr12:122239613-122240308	ENSG00000212694.4
21	lnc-RHOF-1	chr12:122240537-122240975	NONHSAT031468
22	lnc-RHOF-1	chr12:122240785-122241390	ENSG00000212694.4
23	lnc-RHOF-1	chr12:122240537-122240977	NONHSAT031452
24	lnc-RHOF-1	chr12:122240537-122240692	NONHSAT031461

No data

Variant related genes	Relation type
SETD1B	TF binding region
ENSG00000212694	TF binding region
RHOF	TF binding region
SETD1B	CpG island
ENSG00000212694	CpG island
RHOF	CpG island
ENSG00000256546	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000179091	chromatin interactions
ENSG00000127554	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000089094	chromatin interactions
ENSG00000113141	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000205084	chromatin interactions
ENSG00000140391	chromatin interactions
ENSG00000111321	chromatin interactions
ENSG00000099804	chromatin interactions
ENSG00000255856	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000131495	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000122140	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000158104	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000264052	chromatin interactions
ENSG00000239195	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000196408	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000256742	chromatin interactions
ENSG00000173575	chromatin interactions
ENSG00000272888	chromatin interactions
ENSG00000180879	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000158023	chromatin interactions
ENSG00000047249	chromatin interactions
ENSG00000172845	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000067829	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000144580	chromatin interactions
ENSG00000170633	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558811874	chr12:122240120-122240121	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	32 gene(s)	Overlapped CNVs	n/a
2	rs546280262	chr12:122240181-122240182	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
3	rs564672875	chr12:122240197-122240198	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
4	rs193117303	chr12:122240213-122240214	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
5	rs544114045	chr12:122240239-122240240	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
6	rs577991532	chr12:122240273-122240274	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
7	rs562230893	chr12:122240284-122240285	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
8	rs543399151	chr12:122240286-122240287	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
9	rs117907593	chr12:122240296-122240297	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
10	rs368104787	chr12:122240308-122240309	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
11	rs541450249	chr12:122240330-122240331	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
12	rs138719610	chr12:122240346-122240347	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
13	rs546156649	chr12:122240378-122240379	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
14	rs567910189	chr12:122240381-122240382	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
15	rs3741594	chr12:122240461-122240462	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184291186	chr12:122240484-122240485	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
17	rs570327682	chr12:122240713-122240714	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
18	rs531385951	chr12:122240814-122240815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
19	rs550076554	chr12:122240850-122240851	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
20	rs116101750	chr12:122240864-122240865	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
21	rs144448142	chr12:122240958-122240959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
22	rs12578340	chr12:122240959-122240960	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
23	rs117488874	chr12:122241003-122241004	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
24	rs566032312	chr12:122241006-122241007	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
25	rs148391132	chr12:122241041-122241042	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
26	rs558252131	chr12:122241099-122241100	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
27	rs576747621	chr12:122241102-122241103	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
28	rs543634789	chr12:122241170-122241171	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
29	rs372928113	chr12:122241221-122241222	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
30	rs556073377	chr12:122241228-122241229	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
31	rs574258249	chr12:122241232-122241233	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
32	rs541662320	chr12:122241233-122241234	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
33	rs377244030	chr12:122241235-122241236	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
34	rs556458184	chr12:122241306-122241307	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
35	rs559735529	chr12:122241314-122241315	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
36	rs375363560	chr12:122241338-122241339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
37	rs369785841	chr12:122241471-122241472	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
38	rs563815589	chr12:122241491-122241492	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
39	rs79345802	chr12:122241506-122241507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
40	rs549700317	chr12:122241515-122241516	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
41	rs559641499	chr12:122241523-122241524	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
42	rs568207760	chr12:122241613-122241614	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
43	rs371708468	chr12:122241647-122241648	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
44	rs541855737	chr12:122241653-122241654	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
45	rs547641879	chr12:122241689-122241690	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
46	rs566097534	chr12:122241804-122241805	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
47	rs539830508	chr12:122242042-122242043	Weak transcription Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs558313529	chr12:122242352-122242353	Weak transcription Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs547155453	chr12:122242364-122242365	Weak transcription Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs570162143	chr12:122242447-122242448	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 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
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122235200-122245400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:122236800-122245000	Active TSS	Aorta	Aorta
3	chr12:122237000-122240800	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr12:122237000-122243800	Active TSS	Psoas Muscle	Psoas
5	chr12:122237200-122241600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:122237200-122243800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:122237200-122243800	Active TSS	Brain Angular Gyrus	brain
8	chr12:122237200-122243800	Active TSS	Esophagus	oesophagus
9	chr12:122237200-122243800	Active TSS	Left Ventricle	heart
10	chr12:122237200-122243800	Active TSS	Right Ventricle	heart
11	chr12:122237200-122243800	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr12:122237200-122244600	Active TSS	Small Intestine	intestine
13	chr12:122237400-122243600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:122237400-122243600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:122237400-122243600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:122237400-122243800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122237400-122243800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:122237400-122243800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:122237400-122243800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:122237400-122243800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:122237400-122243800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:122237400-122243800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:122237400-122243800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:122237400-122243800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:122237400-122243800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:122237400-122243800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:122237400-122243800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:122237400-122243800	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:122237400-122243800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr12:122237400-122243800	Active TSS	Liver	Liver
31	chr12:122237400-122243800	Active TSS	Colon Smooth Muscle	Colon
32	chr12:122237400-122243800	Active TSS	Duodenum Mucosa	Duodenum
33	chr12:122237400-122243800	Active TSS	Fetal Brain Female	brain
34	chr12:122237400-122243800	Active TSS	Fetal Intestine Large	intestine
35	chr12:122237400-122243800	Active TSS	Pancreas	Pancrea
36	chr12:122237400-122243800	Active TSS	Rectal Smooth Muscle	rectum
37	chr12:122237400-122243800	Active TSS	GM12878-XiMat	blood
38	chr12:122237400-122243800	Active TSS	K562	blood
39	chr12:122237400-122244400	Active TSS	Thymus	Thymus
40	chr12:122237400-122244600	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:122237600-122240400	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr12:122237600-122240600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:122237600-122241600	Active TSS	Stomach Mucosa	stomach
44	chr12:122237600-122242600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:122237600-122243600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:122237600-122243800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:122237600-122243800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr12:122237600-122243800	Active TSS	Brain Anterior Caudate	brain
49	chr12:122237600-122243800	Active TSS	Brain Cingulate Gyrus	brain
50	chr12:122237600-122243800	Active TSS	Brain Hippocampus Middle	brain

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