Variant report

Variant	esv2759911
Chromosome Location	chr12:83101045-83357621
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	BATF	chr12:83230727-83231006	GM12878	blood:	n/a	n/a
2	BATF	chr12:83315530-83315730	GM12878	blood:	n/a	chr12:83315606-83315617
3	BATF	chr12:83336816-83337031	GM12878	blood:	n/a	chr12:83336939-83336950
4	BATF	chr12:83231901-83232111	GM12878	blood:	n/a	n/a
5	BATF	chr12:83353717-83353948	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:83346748-83347174	GM12878	blood:	n/a	n/a
7	BRCA1	chr12:83135545-83135595	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr12:83134036-83134678	HCT-116	colon:	n/a	n/a
9	CBX3	chr12:83133940-83134745	HCT-116	colon:	n/a	n/a
10	CBX3	chr12:83146181-83146525	HCT-116	colon:	n/a	n/a
11	CEBPB	chr12:83278615-83278902	K562	blood:	n/a	chr12:83278727-83278738
12	CEBPB	chr12:83110457-83110667	HepG2	liver:	n/a	chr12:83110556-83110573
13	CEBPB	chr12:83124804-83125203	ECC-1	luminal epithelium:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
14	CEBPB	chr12:83124849-83125131	A549	lung:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
15	CEBPB	chr12:83258296-83258342	K562	blood:	n/a	n/a
16	CEBPB	chr12:83124807-83125226	MCF-7	breast:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
17	CEBPB	chr12:83126810-83127080	HepG2	liver:	n/a	chr12:83126934-83126945 chr12:83126935-83126946
18	CEBPB	chr12:83306317-83306382	HepG2	liver:	n/a	n/a
19	CEBPB	chr12:83107782-83108051	IMR90	lung:	n/a	n/a
20	CEBPB	chr12:83321972-83322179	K562	blood:	n/a	chr12:83322117-83322126 chr12:83322115-83322128 chr12:83322117-83322126 chr12:83322115-83322126 chr12:83322117-83322126
21	CEBPB	chr12:83321976-83322280	H1-hESC	embryonic stem cell:	n/a	chr12:83322117-83322126 chr12:83322115-83322128 chr12:83322117-83322126 chr12:83322115-83322126 chr12:83322117-83322126
22	CEBPB	chr12:83278557-83278915	IMR90	lung:	n/a	chr12:83278727-83278738
23	CEBPB	chr12:83190246-83190494	HepG2	liver:	n/a	chr12:83190395-83190408 chr12:83190395-83190406 chr12:83190397-83190408 chr12:83190392-83190409 chr12:83190395-83190408 chr12:83190395-83190408
24	CEBPB	chr12:83110512-83110636	A549	lung:	n/a	chr12:83110556-83110573
25	CEBPB	chr12:83306124-83306596	MCF-7	breast:	n/a	chr12:83306271-83306284 chr12:83306376-83306388
26	CEBPB	chr12:83107719-83108012	A549	lung:	n/a	n/a
27	CEBPB	chr12:83124868-83125203	Hela-S3	cervix:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
28	CEBPB	chr12:83124843-83125203	A549	lung:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
29	CEBPB	chr12:83278626-83278869	H1-hESC	embryonic stem cell:	n/a	chr12:83278727-83278738
30	CEBPB	chr12:83107720-83108019	HepG2	liver:	n/a	n/a
31	CEBPB	chr12:83151027-83151139	HepG2	liver:	n/a	chr12:83151078-83151089 chr12:83151103-83151116
32	CEBPB	chr12:83278553-83278902	HepG2	liver:	n/a	chr12:83278727-83278738
33	CEBPB	chr12:83124946-83125104	HepG2	liver:	n/a	chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
34	CEBPB	chr12:83124851-83125203	H1-hESC	embryonic stem cell:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
35	CEBPB	chr12:83321993-83322230	A549	lung:	n/a	chr12:83322117-83322126 chr12:83322115-83322128 chr12:83322117-83322126 chr12:83322115-83322126 chr12:83322117-83322126
36	CEBPB	chr12:83278578-83278913	A549	lung:	n/a	chr12:83278727-83278738
37	CEBPB	chr12:83321963-83322240	IMR90	lung:	n/a	chr12:83322117-83322126 chr12:83322115-83322128 chr12:83322117-83322126 chr12:83322115-83322126 chr12:83322117-83322126
38	CEBPB	chr12:83306128-83306613	MCF-7	breast:	n/a	chr12:83306271-83306284 chr12:83306376-83306388
39	CEBPB	chr12:83124862-83125206	K562	blood:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
40	CEBPB	chr12:83278568-83278917	MCF-7	breast:	n/a	chr12:83278727-83278738
41	CEBPB	chr12:83124866-83125213	HepG2	liver:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
42	CEBPB	chr12:83150939-83151111	H1-hESC	embryonic stem cell:	n/a	chr12:83151078-83151089
43	CEBPB	chr12:83124840-83125207	IMR90	lung:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
44	CEBPB	chr12:83124839-83125145	HepG2	liver:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
45	CEBPB	chr12:83321957-83322253	HepG2	liver:	n/a	chr12:83322117-83322126 chr12:83322115-83322128 chr12:83322117-83322126 chr12:83322115-83322126 chr12:83322117-83322126
46	CEBPB	chr12:83124814-83125248	A549	lung:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
47	CEBPB	chr12:83124853-83125215	MCF-7	breast:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
48	CEBPB	chr12:83124839-83125218	HepG2	liver:	n/a	chr12:83125120-83125131 chr12:83125025-83125034 chr12:83125025-83125034 chr12:83125023-83125034 chr12:83125025-83125034
49	CHD2	chr12:83187792-83187999	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr12:83346908-83346912	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:83231401-83231451	HL-60	blood:	n/a
2	chr12:83178545-83178595	AG09319	gingival:	n/a
3	chr12:83122627-83122677	AoSMC	blood vessel:	n/a
4	chr12:83176430-83176480	GM12878	blood:	n/a
5	chr12:83102075-83102125	SK-N-SH_RA	brain:	n/a
6	chr12:83102075-83102125	T-47D	breast:	n/a
7	chr12:83178545-83178595	IMR90	lung:	fetal
8	chr12:83122736-83122786	HIPEpiC	eye:	n/a
9	chr12:83150597-83150647	AG04450	lung:	fetal
10	chr12:83321412-83321462	HCPEpiC	choroid plexus:	n/a
11	chr12:83125178-83125228	CMK	blood:	n/a
12	chr12:83264140-83264190	HAEpiC	amniotic membrane:	n/a
13	chr12:83102075-83102125	H1-hESC	embryonic stem cell:	embryo
14	chr12:83251284-83251334	ProgFib	skin:	n/a
15	chr12:83251284-83251334	MCF-7	breast:	n/a
16	chr12:83321412-83321462	ECC-1	luminal epithelium:	n/a
17	chr12:83264140-83264190	HMEC	breast:	n/a
18	chr12:83122736-83122786	U87	brain:	n/a
19	chr12:83176430-83176480	T-47D	breast:	n/a
20	chr12:83251284-83251334	AG04450	lung:	fetal
21	chr12:83231401-83231451	SK-N-SH_RA	brain:	n/a
22	chr12:83176430-83176480	CMK	blood:	n/a
23	chr12:83251284-83251334	AG10803	skin:	n/a
24	chr12:83122736-83122786	HNPCEpiC	eye:	n/a
25	chr12:83102075-83102125	HNPCEpiC	eye:	n/a
26	chr12:83251284-83251334	HCPEpiC	choroid plexus:	n/a
27	chr12:83231401-83231451	ECC-1	luminal epithelium:	n/a
28	chr12:83176430-83176480	BE2_C	brain:	n/a
29	chr12:83321412-83321462	PrEC	prostate:	n/a
30	chr12:83122627-83122677	GM06990	blood:	n/a
31	chr12:83178545-83178595	H1-hESC	embryonic stem cell:	embryo
32	chr12:83231401-83231451	BE2_C	brain:	n/a
33	chr12:83231401-83231451	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:83150597-83150647	GM19239	blood:	n/a
35	chr12:83178545-83178595	RPTEC	kidney:	n/a
36	chr12:83251284-83251334	NHDF-neo	bronchial:	n/a
37	chr12:83125178-83125228	PANC-1	pancreas:	n/a
38	chr12:83150597-83150647	GM12892	blood:	n/a
39	chr12:83122627-83122677	ProgFib	skin:	n/a
40	chr12:83264140-83264190	HCF	heart:	n/a
41	chr12:83251284-83251334	HNPCEpiC	eye:	n/a
42	chr12:83122627-83122677	MCF-7	breast:	n/a
43	chr12:83178545-83178595	ovcar-3	ovarian:	n/a
44	chr12:83102075-83102125	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:83150597-83150647	SK-N-SH	brain:	n/a
46	chr12:83321412-83321462	IMR90	lung:	fetal
47	chr12:83264140-83264190	HCT-116	colon:	n/a
48	chr12:83122627-83122677	ovcar-3	ovarian:	n/a
49	chr12:83122736-83122786	RPTEC	kidney:	n/a
50	chr12:83264140-83264190	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:83082650..83084238-chr12:83109960..83112390,2	MCF-7	breast:
2	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
3	chr12:83104932..83106856-chr12:83113427..83114996,2	K562	blood:
4	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
5	chr12:83140733..83141444-chr9:105581833..105582602,2	MCF-7	breast:
6	chr12:83079098..83081818-chr12:83144882..83148217,3	MCF-7	breast:
7	chr12:83133232..83134776-chr12:83139267..83141061,2	MCF-7	breast:
8	chr12:83078166..83081005-chr12:83099084..83103387,3	MCF-7	breast:
9	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
10	chr12:83331086..83333520-chr12:83336090..83338497,2	MCF-7	breast:
11	chr12:83268692..83270482-chr12:83272370..83274630,2	MCF-7	breast:
12	chr12:83217943..83220589-chr12:83226271..83227782,2	MCF-7	breast:
13	chr12:83290340..83292538-chr12:83294393..83296848,3	MCF-7	breast:
14	chr12:83260146..83261680-chr12:83263667..83266615,2	MCF-7	breast:
15	chr12:83278119..83280472-chr12:83281151..83283722,2	K562	blood:
16	chr12:83077297..83078842-chr12:83272817..83275278,2	MCF-7	breast:
17	chr12:83276930..83278869-chr12:83287906..83289441,2	MCF-7	breast:
18	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
19	chr12:83079558..83081676-chr12:83103138..83105199,2	MCF-7	breast:
20	chr12:83268692..83270482-chr12:83272370..83274630,2	MCF-7	breast:
21	chr12:83079933..83081685-chr12:83149199..83150778,2	MCF-7	breast:
22	chr12:83101540..83104228-chr12:83107720..83109388,2	MCF-7	breast:
23	chr12:83138681..83143794-chr12:83143962..83149750,5	MCF-7	breast:
24	chr12:83097783..83100003-chr12:83108157..83109811,2	MCF-7	breast:
25	chr12:83079688..83081894-chr12:83286384..83287965,2	MCF-7	breast:
26	chr12:83261344..83263422-chr12:83265254..83267423,2	K562	blood:
27	chr12:83101540..83104228-chr12:83107720..83109388,2	MCF-7	breast:
28	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
29	chr12:83325182..83326101-chr17:59664868..59665557,2	MCF-7	breast:
30	chr12:83122848..83125813-chr12:83126574..83128906,2	MCF-7	breast:
31	chr12:83290340..83292538-chr12:83294393..83296848,3	MCF-7	breast:
32	chr12:83126623..83129163-chr12:83131668..83133523,2	K562	blood:
33	chr12:83147722..83149348-chr12:83154033..83155757,2	K562	blood:
34	chr12:83342058..83344006-chr12:83365931..83367769,2	MCF-7	breast:
35	chr12:83104932..83106856-chr12:83113427..83114996,2	K562	blood:
36	chr12:83286167..83286675-chr13:76878102..76878843,2	MCF-7	breast:
37	chr12:83302739..83305920-chr12:83306463..83310168,4	MCF-7	breast:
38	chr12:83103199..83104985-chr12:83114072..83116122,2	MCF-7	breast:
39	chr12:83275194..83275759-chr14:35873416..35874250,2	MCF-7	breast:
40	chr12:83325445..83327291-chr12:83327894..83329399,2	MCF-7	breast:
41	chr12:83305903..83307525-chr12:83309083..83310655,2	K562	blood:
42	chr12:83217595..83219662-chr12:83240965..83242554,2	MCF-7	breast:
43	chr12:83161002..83162566-chr12:83300658..83302592,2	MCF-7	breast:
44	chr12:83341035..83343546-chr12:83347635..83350159,2	MCF-7	breast:
45	chr12:83260099..83262416-chr12:83272276..83274826,2	K562	blood:
46	chr12:83079278..83081926-chr12:83348191..83350037,2	MCF-7	breast:
47	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
48	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:
49	chr12:83079046..83081120-chr12:83306980..83308538,2	MCF-7	breast:
50	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:

Variant related genes	Relation type
TMTC2	TF binding region
TMTC2	CpG island
ENSG00000100906	chromatin interactions
ENSG00000179104	chromatin interactions

Extended variants
information (count: 9732 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:9732 , 50 per page) page: 1 2 3 4 5 6 7 ... 195

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532221305	chr12:83101064-83101065	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551884093	chr12:83101072-83101073	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568630604	chr12:83101073-83101074	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577677001	chr12:83101110-83101111	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530077026	chr12:83101124-83101125	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553850472	chr12:83101140-83101141	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572690319	chr12:83101151-83101152	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542986188	chr12:83101205-83101206	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138769903	chr12:83101267-83101268	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185032742	chr12:83101308-83101309	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576584797	chr12:83101311-83101312	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12426166	chr12:83101314-83101315	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs565050815	chr12:83101417-83101418	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532323809	chr12:83101436-83101437	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575535333	chr12:83101457-83101458	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190285650	chr12:83101477-83101478	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141918759	chr12:83101529-83101530	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549035015	chr12:83101540-83101541	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567426050	chr12:83101545-83101546	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537660654	chr12:83101556-83101557	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549861529	chr12:83101561-83101562	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571362741	chr12:83101577-83101578	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76714160	chr12:83101588-83101589	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553788845	chr12:83101690-83101691	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79210925	chr12:83101739-83101740	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560340173	chr12:83101748-83101749	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536925500	chr12:83101750-83101751	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550769465	chr12:83101759-83101760	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554981663	chr12:83101783-83101784	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181103844	chr12:83101815-83101816	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543615929	chr12:83101885-83101886	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146305636	chr12:83101887-83101888	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567572590	chr12:83101905-83101906	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527796764	chr12:83101928-83101929	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186009565	chr12:83101958-83101959	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74106272	chr12:83102026-83102027	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576915227	chr12:83102076-83102077	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541159273	chr12:83102102-83102103	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191655907	chr12:83102112-83102113	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530061549	chr12:83102124-83102125	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536588888	chr12:83102142-83102143	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542871266	chr12:83102193-83102194	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149601528	chr12:83102219-83102220	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531486051	chr12:83102225-83102226	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144334485	chr12:83102257-83102258	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs17009863	chr12:83102306-83102307	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11614435	chr12:83102325-83102326	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370673418	chr12:83102387-83102388	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12318375	chr12:83102392-83102393	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565638024	chr12:83102405-83102406	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2755 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83082200-83102200	Weak transcription	Lung	lung
2	chr12:83082800-83102000	Weak transcription	NHDF-Ad	bronchial
3	chr12:83082800-83102200	Weak transcription	Pancreas	Pancrea
4	chr12:83083600-83101800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:83084000-83101400	Weak transcription	Fetal Kidney	kidney
6	chr12:83084600-83101200	Weak transcription	Fetal Stomach	stomach
7	chr12:83084800-83101400	Weak transcription	GM12878-XiMat	blood
8	chr12:83086000-83102200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:83086600-83122200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:83087200-83105600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:83087400-83101200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:83087400-83106400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:83092800-83102200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:83093200-83122400	Weak transcription	Gastric	stomach
15	chr12:83093400-83101200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:83095400-83106600	Weak transcription	Fetal Intestine Large	intestine
17	chr12:83096000-83102000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:83096000-83105800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:83096200-83101200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:83098000-83121200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:83098800-83106800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:83099000-83101600	Weak transcription	Fetal Lung	lung
23	chr12:83099200-83122400	Weak transcription	Esophagus	oesophagus
24	chr12:83099400-83102200	Enhancers	Brain Substantia Nigra	brain
25	chr12:83099400-83103800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:83099600-83101200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:83099600-83101200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:83100400-83102200	Enhancers	Brain Anterior Caudate	brain
29	chr12:83100400-83103200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:83100600-83102000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:83100600-83102200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:83100600-83102400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:83100600-83102800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:83100600-83103000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:83100800-83101400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:83100800-83102200	Enhancers	Brain Hippocampus Middle	brain
37	chr12:83100800-83102200	Enhancers	Colon Smooth Muscle	Colon
38	chr12:83100800-83102800	Enhancers	Fetal Heart	heart
39	chr12:83101000-83101400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:83101000-83101800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:83101000-83102800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:83101000-83104800	Enhancers	Rectal Smooth Muscle	rectum
43	chr12:83101200-83101400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:83101200-83102000	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:83101200-83102400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:83101200-83102600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:83101200-83102800	Enhancers	Fetal Muscle Leg	muscle
48	chr12:83101200-83102800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:83101200-83103000	Enhancers	Fetal Stomach	stomach
50	chr12:83101400-83101600	Enhancers	Duodenum Smooth Muscle	Duodenum

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