Variant report

Variant	esv3363771
Chromosome Location	chr12:122687274-122690547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122687738-122687865	HepG2	liver:	n/a	n/a
2	BACH1	chr12:122688387-122688662	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr12:122689594-122691230	A549	lung:	n/a	chr12:122690460-122690469
4	BCL3	chr12:122689559-122690641	A549	lung:	n/a	chr12:122690460-122690469
5	BHLHE40	chr12:122687961-122688142	GM12878	blood:	n/a	chr12:122688042-122688058
6	BHLHE40	chr12:122687806-122688458	K562	blood:	n/a	chr12:122688042-122688058 chr12:122688361-122688377
7	CBX3	chr12:122687726-122688148	K562	blood:	n/a	n/a
8	CBX3	chr12:122688187-122688422	K562	blood:	n/a	n/a
9	CCNT2	chr12:122687951-122688540	K562	blood:	n/a	n/a
10	CCNT2	chr12:122688808-122689045	K562	blood:	n/a	n/a
11	CHD1	chr12:122687824-122687963	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr12:122687866-122688066	K562	blood:	n/a	n/a
13	CHD2	chr12:122689215-122689277	K562	blood:	n/a	n/a
14	CHD2	chr12:122689667-122691433	K562	blood:	n/a	chr12:122690203-122690213
15	CHD2	chr12:122689971-122690253	H1-hESC	embryonic stem cell:	n/a	chr12:122690203-122690213
16	CREB1	chr12:122687885-122688081	A549	lung:	n/a	n/a
17	CREB1	chr12:122687756-122688188	A549	lung:	n/a	n/a
18	CTCF	chr12:122688700-122688850	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr12:122687922-122688020	GM19239	blood:	n/a	n/a
20	CTCF	chr12:122688720-122688870	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr12:122688620-122688770	AG04449	skin:	n/a	n/a
22	CTCF	chr12:122690340-122690377	K562	blood:	n/a	n/a
23	E2F4	chr12:122687870-122688122	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F6	chr12:122687590-122688544	H1-hESC	embryonic stem cell:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
25	E2F6	chr12:122687529-122688660	A549	lung:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
26	E2F6	chr12:122687720-122688502	H1-hESC	embryonic stem cell:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
27	E2F6	chr12:122687791-122688609	K562	blood:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
28	E2F6	chr12:122687757-122688605	A549	lung:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
29	E2F6	chr12:122687839-122688587	K562	blood:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
30	E2F6	chr12:122688225-122688408	K562	blood:	n/a	n/a
31	E2F6	chr12:122687857-122688177	K562	blood:	n/a	chr12:122688016-122688027
32	EGR1	chr12:122687754-122688386	K562	blood:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
33	EGR1	chr12:122687767-122688470	ECC-1	luminal epithelium:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
34	EGR1	chr12:122687895-122688125	GM12878	blood:	n/a	chr12:122687955-122687969 chr12:122688022-122688033 chr12:122687989-122688003 chr12:122688021-122688034
35	EGR1	chr12:122687722-122688482	HCT-116	colon:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
36	EGR1	chr12:122687876-122688080	GM12878	blood:	n/a	chr12:122687955-122687969 chr12:122688022-122688033 chr12:122687989-122688003 chr12:122688021-122688034
37	EGR1	chr12:122687781-122688283	K562	blood:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
38	EGR1	chr12:122687623-122688613	HCT-116	colon:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
39	EGR1	chr12:122687725-122688395	ECC-1	luminal epithelium:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
40	EGR1	chr12:122687713-122688408	MCF-7	breast:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
41	ELF1	chr12:122688392-122688591	K562	blood:	n/a	chr12:122688515-122688527
42	ELF1	chr12:122687852-122688376	K562	blood:	n/a	chr12:122688019-122688031
43	ELK1	chr12:122687883-122688093	K562	blood:	n/a	n/a
44	EP300	chr12:122687889-122687899	K562	blood:	n/a	n/a
45	EP300	chr12:122687835-122688199	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr12:122686053-122688248	SK-N-SH	brain:	n/a	n/a
47	EP300	chr12:122687828-122688169	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr12:122687734-122688402	ECC-1	luminal epithelium:	n/a	n/a
49	EP300	chr12:122687814-122688298	T-47D	breast:	n/a	n/a
50	EP300	chr12:122687819-122688154	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122687823-122687873	SAEC	small airway:	n/a
2	chr12:122687951-122688001	MCF10A-Er-Src	breast:	n/a
3	chr12:122687992-122688042	GM12891	blood:	n/a
4	chr12:122688787-122688837	NB4	blood:	n/a
5	chr12:122688176-122688226	PFSK-1	brain:	n/a
6	chr12:122688708-122688758	MCF-7	breast:	n/a
7	chr12:122688969-122689019	MCF-7	breast:	n/a
8	chr12:122687823-122687873	BE2_C	brain:	n/a
9	chr12:122688787-122688837	GM12878	blood:	n/a
10	chr12:122687951-122688001	HCM	heart:	n/a
11	chr12:122687992-122688042	NH-A	brain:	n/a
12	chr12:122688279-122688329	AG09319	gingival:	n/a
13	chr12:122688186-122688236	LNCaP	prostate:	n/a
14	chr12:122688708-122688758	HPAEpiC	pulmonary alveolar:	n/a
15	chr12:122688186-122688236	HRPEpiC	eye:	n/a
16	chr12:122688787-122688837	LNCaP	prostate:	n/a
17	chr12:122687951-122688001	NHBE	bronchial:	n/a
18	chr12:122688176-122688226	HIPEpiC	eye:	n/a
19	chr12:122688708-122688758	SAEC	small airway:	n/a
20	chr12:122688186-122688236	HCPEpiC	choroid plexus:	n/a
21	chr12:122688279-122688329	CMK	blood:	n/a
22	chr12:122688186-122688236	GM12878	blood:	n/a
23	chr12:122687823-122687873	Hela-S3	cervix:	n/a
24	chr12:122688176-122688226	AoSMC	blood vessel:	n/a
25	chr12:122687992-122688042	SKMC	muscle:	n/a
26	chr12:122688708-122688758	BJ	skin:	n/a
27	chr12:122688708-122688758	Jurkat	blood:	n/a
28	chr12:122688969-122689019	ECC-1	luminal epithelium:	n/a
29	chr12:122688969-122689019	RPTEC	kidney:	n/a
30	chr12:122687823-122687873	A549	lung:	n/a
31	chr12:122688279-122688329	HMEC	breast:	n/a
32	chr12:122688787-122688837	BJ	skin:	n/a
33	chr12:122687758-122687808	AG09319	gingival:	n/a
34	chr12:122688708-122688758	IMR90	lung:	fetal
35	chr12:122688176-122688226	SK-N-SH	brain:	n/a
36	chr12:122688787-122688837	HL-60	blood:	n/a
37	chr12:122687992-122688042	HRPEpiC	eye:	n/a
38	chr12:122688186-122688236	PrEC	prostate:	n/a
39	chr12:122687823-122687873	MCF-7	breast:	n/a
40	chr12:122688708-122688758	GM19239	blood:	n/a
41	chr12:122687823-122687873	SK-N-MC	brain:	n/a
42	chr12:122688969-122689019	K562	blood:	n/a
43	chr12:122688186-122688236	NT2-D1	testis:	n/a
44	chr12:122687758-122687808	MCF10A-Er-Src	breast:	n/a
45	chr12:122688176-122688226	HUVEC	blood vessel:	n/a
46	chr12:122688708-122688758	HAEpiC	amniotic membrane:	n/a
47	chr12:122687823-122687873	HRE	kidney:	n/a
48	chr12:122688279-122688329	H1-hESC	embryonic stem cell:	embryo
49	chr12:122687992-122688042	HCPEpiC	choroid plexus:	n/a
50	chr12:122688708-122688758	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:
2	chr12:122457835..122460525-chr12:122689961..122692307,2	K562	blood:
3	chr12:122685909..122687516-chr12:122700477..122703234,2	MCF-7	breast:
4	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
5	chr12:122326336..122328188-chr12:122688489..122691049,2	MCF-7	breast:
6	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
7	chr12:122614284..122615813-chr12:122686761..122688798,2	MCF-7	breast:
8	chr12:122688160..122690771-chr12:122750336..122752523,2	MCF-7	breast:
9	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
10	chr12:122689282..122691935-chr12:122699257..122701541,2	MCF-7	breast:
11	chr12:122522234..122524489-chr12:122689205..122691310,2	MCF-7	breast:
12	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
13	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
14	chr12:122625217..122627565-chr12:122689835..122692014,2	K562	blood:
15	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:
16	chr12:122620610..122622976-chr12:122690151..122692942,2	K562	blood:
17	chr12:122674983..122677095-chr12:122689266..122691695,2	K562	blood:
18	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
19	chr12:122689976..122691920-chr12:122706553..122708365,2	MCF-7	breast:

Variant related genes	Relation type
B3GNT4	TF binding region
B3GNT4	CpG island
ENSG00000256950	chromatin interactions
ENSG00000139719	chromatin interactions
ENSG00000255856	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000256861	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552770702	chr12:122687327-122687328	Weak transcription Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs114198112	chr12:122687372-122687373	Weak transcription Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs573706013	chr12:122687376-122687377	Weak transcription Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs138318627	chr12:122687407-122687408	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs370215966	chr12:122687426-122687427	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs149647570	chr12:122687445-122687446	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs79165720	chr12:122687531-122687532	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs569459837	chr12:122687535-122687536	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs369822206	chr12:122687542-122687543	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs181043502	chr12:122687552-122687553	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs545400254	chr12:122687587-122687588	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs146173728	chr12:122687588-122687589	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs531224835	chr12:122687665-122687666	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs549373944	chr12:122687677-122687678	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs561631460	chr12:122687709-122687710	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs528651515	chr12:122687732-122687733	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs547204734	chr12:122687733-122687734	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs185521554	chr12:122687750-122687751	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs374925563	chr12:122687751-122687752	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs114970303	chr12:122687802-122687803	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs550949572	chr12:122687804-122687805	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs569268446	chr12:122687806-122687807	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs537053605	chr12:122687808-122687809	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs373252737	chr12:122687829-122687830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs200001520	chr12:122687830-122687831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs201633922	chr12:122687831-122687832	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs369996509	chr12:122687853-122687854	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs188717424	chr12:122687890-122687891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs376532409	chr12:122687920-122687921	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs538569275	chr12:122687921-122687922	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs370989548	chr12:122687927-122687928	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs578142899	chr12:122687951-122687952	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs374361009	chr12:122687956-122687957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs201106302	chr12:122687959-122687960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs200712850	chr12:122687960-122687961	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs371751939	chr12:122687968-122687969	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs200232143	chr12:122688024-122688025	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs543030703	chr12:122688028-122688029	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs374577996	chr12:122688039-122688040	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs561405580	chr12:122688047-122688048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs528807733	chr12:122688050-122688051	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs540463954	chr12:122688051-122688052	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs368441979	chr12:122688053-122688054	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs532577264	chr12:122688054-122688055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs574392696	chr12:122688124-122688125	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs371285721	chr12:122688131-122688132	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs551014746	chr12:122688160-122688161	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs12812384	chr12:122688184-122688185	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs569434113	chr12:122688186-122688187	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs530390662	chr12:122688187-122688188	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122677800-122687400	Weak transcription	Right Atrium	heart
2	chr12:122683400-122687400	Weak transcription	Pancreas	Pancrea
3	chr12:122683400-122687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:122683800-122687400	Weak transcription	K562	blood
5	chr12:122685600-122687400	Weak transcription	Gastric	stomach
6	chr12:122685800-122687400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:122686400-122687400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:122687000-122687400	Bivalent Enhancer	Primary T cells from cord blood	blood
9	chr12:122687000-122687400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:122687000-122687400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:122687000-122687600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:122687000-122687800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:122687000-122687800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122687200-122687400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:122687200-122687400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr12:122687200-122687400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:122687200-122687600	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr12:122687200-122687600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr12:122687200-122687600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr12:122687200-122687600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:122687200-122687600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr12:122687200-122687600	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr12:122687200-122687600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:122687200-122687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:122687200-122687800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:122687400-122687600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:122687400-122687600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr12:122687400-122687600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:122687400-122687600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr12:122687400-122687600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:122687400-122687600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr12:122687400-122687600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:122687400-122687600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:122687400-122687600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:122687400-122687600	Enhancers	Brain Anterior Caudate	brain
36	chr12:122687400-122687600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
37	chr12:122687400-122687600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr12:122687400-122687600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr12:122687400-122687600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr12:122687400-122687600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr12:122687400-122687600	Bivalent Enhancer	Placenta	Placenta
42	chr12:122687400-122687600	Bivalent Enhancer	Fetal Stomach	stomach
43	chr12:122687400-122687600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
44	chr12:122687400-122687600	Enhancers	Right Ventricle	heart
45	chr12:122687400-122687600	Enhancers	HMEC	breast
46	chr12:122687400-122687600	Enhancers	NHEK	skin
47	chr12:122687400-122687800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:122687400-122687800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr12:122687400-122687800	Enhancers	Liver	Liver
50	chr12:122687400-122687800	Bivalent Enhancer	Colonic Mucosa	Colon

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