Variant report

Variant	nsv524938
Chromosome Location	chr12:118624736-118740675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:642)
CpG islands
(count:183)
Chromatin interactive
region (count:70)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:118659728-118660141	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:118725664-118726444	K562	blood:	n/a	n/a
3	ATF1	chr12:118726099-118726318	K562	blood:	n/a	n/a
4	BACH1	chr12:118626894-118626936	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:118715665-118716093	K562	blood:	n/a	n/a
6	BATF	chr12:118689417-118689668	GM12878	blood:	n/a	n/a
7	BATF	chr12:118643133-118643382	GM12878	blood:	n/a	n/a
8	BATF	chr12:118643632-118643914	GM12878	blood:	n/a	n/a
9	BATF	chr12:118635833-118636149	GM12878	blood:	n/a	n/a
10	BCL11A	chr12:118643074-118643455	GM12878	blood:	n/a	n/a
11	BCL11A	chr12:118674790-118675224	GM12878	blood:	n/a	chr12:118675058-118675067
12	BCL11A	chr12:118643173-118643395	GM12878	blood:	n/a	n/a
13	BCL11A	chr12:118674866-118675185	GM12878	blood:	n/a	chr12:118675058-118675067
14	BCL3	chr12:118658664-118658891	GM12878	blood:	n/a	n/a
15	BCLAF1	chr12:118643562-118644068	GM12878	blood:	n/a	n/a
16	BCLAF1	chr12:118674680-118675262	GM12878	blood:	n/a	chr12:118675058-118675067
17	BHLHE40	chr12:118737807-118738444	GM12878	blood:	n/a	n/a
18	CBX3	chr12:118709511-118710067	HCT-116	colon:	n/a	n/a
19	CEBPB	chr12:118709466-118710151	MCF-7	breast:	n/a	n/a
20	CEBPB	chr12:118626432-118626753	IMR90	lung:	n/a	n/a
21	CEBPB	chr12:118709668-118709872	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:118650039-118650304	A549	lung:	n/a	n/a
23	CEBPB	chr12:118709615-118709943	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr12:118709414-118710158	HCT-116	colon:	n/a	n/a
25	CEBPB	chr12:118709525-118710026	HCT-116	colon:	n/a	n/a
26	CEBPB	chr12:118709565-118710062	MCF-7	breast:	n/a	n/a
27	CEBPB	chr12:118688687-118688792	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr12:118704479-118704600	IMR90	lung:	n/a	n/a
29	CEBPB	chr12:118709645-118710013	ECC-1	luminal epithelium:	n/a	n/a
30	CHD2	chr12:118726099-118726295	K562	blood:	n/a	n/a
31	CHD2	chr12:118674871-118675269	GM12878	blood:	n/a	n/a
32	CTCF	chr12:118737740-118737890	HCPEpiC	choroid plexus:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
33	CTCF	chr12:118737713-118737793	NHEK	skin:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
34	CTCF	chr12:118737640-118737790	NHDF-neo	bronchial:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
35	CTCF	chr12:118639780-118639930	HMF	breast:	n/a	n/a
36	CTCF	chr12:118737680-118737830	HPF	lung:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
37	CTCF	chr12:118737660-118737810	HVMF	connective:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
38	CTCF	chr12:118737740-118737890	MCF-7	breast:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
39	CTCF	chr12:118737680-118737830	HAc	cerebellar:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
40	CTCF	chr12:118737542-118737901	MCF-7	breast:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
41	CTCF	chr12:118691579-118691619	GM13976	blood:	n/a	n/a
42	CTCF	chr12:118737640-118737790	HPAF	blood vessel:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
43	CTCF	chr12:118737620-118737770	GM12873	blood:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
44	CTCF	chr12:118704044-118704088	MCF-7	breast:	n/a	n/a
45	CTCF	chr12:118737664-118737857	A549	lung:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
46	CTCF	chr12:118640151-118640185	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr12:118737620-118737770	AG09319	gingival:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
48	CTCF	chr12:118737680-118737830	HMF	breast:	n/a	chr12:118737747-118737760 chr12:118737744-118737762
49	CTCF	chr12:118687527-118687604	GM13976	blood:	n/a	n/a
50	CTCF	chr12:118737660-118737810	GM06990	blood:	n/a	chr12:118737747-118737760 chr12:118737744-118737762

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118728016-118728066	AG09319	gingival:	n/a
2	chr12:118683952-118684002	HIPEpiC	eye:	n/a
3	chr12:118627943-118627993	HepG2	liver:	n/a
4	chr12:118728016-118728066	GM12878	blood:	n/a
5	chr12:118728016-118728066	BE2_C	brain:	n/a
6	chr12:118728016-118728066	SK-N-SH_RA	brain:	n/a
7	chr12:118683952-118684002	HCF	heart:	n/a
8	chr12:118728016-118728066	Hepatocyte	liver:	n/a
9	chr12:118683952-118684002	H1-hESC	embryonic stem cell:	embryo
10	chr12:118627943-118627993	Hepatocyte	liver:	n/a
11	chr12:118728016-118728066	U87	brain:	n/a
12	chr12:118728016-118728066	GM19239	blood:	n/a
13	chr12:118627943-118627993	IMR90	lung:	fetal
14	chr12:118728016-118728066	NT2-D1	testis:	n/a
15	chr12:118728016-118728066	Caco-2	colon:	n/a
16	chr12:118627943-118627993	BJ	skin:	n/a
17	chr12:118627943-118627993	HEK293	kidney:	embryo
18	chr12:118627943-118627993	HAEpiC	amniotic membrane:	n/a
19	chr12:118683952-118684002	HNPCEpiC	eye:	n/a
20	chr12:118627943-118627993	SKMC	muscle:	n/a
21	chr12:118683952-118684002	AG04450	lung:	fetal
22	chr12:118683952-118684002	A549	lung:	n/a
23	chr12:118728016-118728066	NH-A	brain:	n/a
24	chr12:118683952-118684002	HCPEpiC	choroid plexus:	n/a
25	chr12:118728016-118728066	PFSK-1	brain:	n/a
26	chr12:118728016-118728066	SK-N-SH	brain:	n/a
27	chr12:118627943-118627993	MCF-7	breast:	n/a
28	chr12:118627943-118627993	LNCaP	prostate:	n/a
29	chr12:118627943-118627993	SK-N-SH_RA	brain:	n/a
30	chr12:118728016-118728066	HCF	heart:	n/a
31	chr12:118627943-118627993	HRE	kidney:	n/a
32	chr12:118627943-118627993	HNPCEpiC	eye:	n/a
33	chr12:118627943-118627993	HL-60	blood:	n/a
34	chr12:118683952-118684002	Hepatocyte	liver:	n/a
35	chr12:118627943-118627993	GM12892	blood:	n/a
36	chr12:118627943-118627993	NT2-D1	testis:	n/a
37	chr12:118683952-118684002	ProgFib	skin:	n/a
38	chr12:118683952-118684002	GM06990	blood:	n/a
39	chr12:118728016-118728066	GM12891	blood:	n/a
40	chr12:118683952-118684002	LNCaP	prostate:	n/a
41	chr12:118627943-118627993	T-47D	breast:	n/a
42	chr12:118627943-118627993	HEEpiC	esophagus:	n/a
43	chr12:118728016-118728066	HepG2	liver:	n/a
44	chr12:118627943-118627993	SAEC	small airway:	n/a
45	chr12:118627943-118627993	NHDF-neo	bronchial:	n/a
46	chr12:118728016-118728066	ovcar-3	ovarian:	n/a
47	chr12:118627943-118627993	HIPEpiC	eye:	n/a
48	chr12:118728016-118728066	PANC-1	pancreas:	n/a
49	chr12:118627943-118627993	HCT-116	colon:	n/a
50	chr12:118683952-118684002	HMEC	breast:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:118585664..118587231-chr12:118640737..118643618,2	K562	blood:
2	chr12:118691774..118694683-chr12:118713486..118715660,2	K562	blood:
3	chr12:118718687..118720967-chr12:118721247..118724156,2	MCF-7	breast:
4	chr12:118636493..118639224-chr12:118810079..118811785,2	MCF-7	breast:
5	chr12:118690956..118692482-chr12:118706042..118708057,2	K562	blood:
6	chr12:118623962..118626821-chr12:118810133..118812850,4	MCF-7	breast:
7	chr12:118670359..118672856-chr12:118680813..118682507,2	K562	blood:
8	chr12:118666496..118668871-chr12:118808783..118811137,2	MCF-7	breast:
9	chr12:118629679..118631929-chr12:118813137..118814645,2	MCF-7	breast:
10	chr12:118687145..118690867-chr12:118809484..118812867,4	K562	blood:
11	chr12:118670061..118671859-chr12:118680018..118682313,2	K562	blood:
12	chr12:118624725..118628075-chr12:118814088..118815876,3	K562	blood:
13	chr12:118709106..118711234-chr12:118810302..118813742,3	MCF-7	breast:
14	chr12:118639707..118640538-chr12:118813621..118814282,4	MCF-7	breast:
15	chr12:118629722..118631578-chr12:118673558..118677291,3	K562	blood:
16	chr12:118697555..118699270-chr12:118703351..118704934,2	K562	blood:
17	chr12:118666340..118669274-chr12:118811225..118812911,2	MCF-7	breast:
18	chr12:118697555..118699270-chr12:118703351..118704934,2	K562	blood:
19	chr12:118673643..118676401-chr12:118686637..118689650,3	K562	blood:
20	chr12:118629722..118631578-chr12:118673558..118677291,3	K562	blood:
21	chr1:174967586..174968141-chr12:118675636..118676136,2	HCT-116	colon:
22	chr12:118740466..118742711-chr12:118813102..118814672,2	MCF-7	breast:
23	chr12:118624725..118626657-chr12:118814280..118815876,2	K562	blood:
24	chr12:118630878..118633154-chr12:118640207..118642397,2	K562	blood:
25	chr12:118685088..118687913-chr12:118695342..118697547,2	MCF-7	breast:
26	chr12:118693183..118695711-chr12:118713486..118715478,2	K562	blood:
27	chr12:118661760..118663276-chr12:118809013..118811157,2	MCF-7	breast:
28	chr12:118729613..118732493-chr12:118733521..118736057,3	K562	blood:
29	chr12:118690956..118692482-chr12:118706042..118708057,2	K562	blood:
30	chr12:118674498..118676641-chr12:118709744..118711259,2	MCF-7	breast:
31	chr12:118670146..118671959-chr12:118810899..118813142,2	MCF-7	breast:
32	chr12:118637134..118639756-chr12:118657925..118660314,3	MCF-7	breast:
33	chr12:118726233..118728965-chr12:118795534..118797544,2	K562	blood:
34	chr12:118712134..118713954-chr12:118730833..118733395,2	MCF-7	breast:
35	chr12:118638724..118640594-chr12:118810784..118812979,2	K562	blood:
36	chr12:118630878..118633154-chr12:118640207..118642397,2	K562	blood:
37	chr12:118686747..118689225-chr12:118810170..118812867,3	K562	blood:
38	chr12:118676214..118678466-chr12:118707560..118709083,2	MCF-7	breast:
39	chr12:118632071..118634758-chr12:118814095..118816162,2	MCF-7	breast:
40	chr12:118629113..118632294-chr12:118813183..118816141,3	MCF-7	breast:
41	chr12:118674498..118676641-chr12:118709744..118711259,2	MCF-7	breast:
42	chr12:118718803..118721131-chr12:118813506..118815349,2	K562	blood:
43	chr12:118730543..118732493-chr12:118733563..118736057,4	K562	blood:
44	chr12:118693828..118695556-chr12:118699304..118701517,2	K562	blood:
45	chr12:118702115..118703635-chr12:118708440..118710565,2	MCF-7	breast:
46	chr12:118734540..118737198-chr12:118753969..118757763,3	K562	blood:
47	chr12:118730543..118732493-chr12:118733563..118736057,4	K562	blood:
48	chr12:118637134..118639756-chr12:118657925..118660314,3	MCF-7	breast:
49	chr12:118728193..118730845-chr12:118739160..118741836,2	K562	blood:
50	chr12:118706508..118709045-chr12:118814586..118816680,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSIG10-4	chr12:118699302-118699478	NONHSAT031036
2	lnc-VSIG10-2	chr12:118633213-118633590	expReg_chr12_10373_-
3	lnc-VSIG10-4	chr12:118693401-118693460	NONHSAT031036
4	lnc-VSIG10-4	chr12:118704460-118704564	NONHSAT031036

No data

Variant related genes	Relation type
RPS2P5	TF binding region
TAOK3	TF binding region
RPS2P5	CpG island
TAOK3	CpG island
ENSG00000111707	chromatin interactions
ENSG00000270482	chromatin interactions
ENSG00000135090	chromatin interactions

Extended variants
information (count: 3807 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3807 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16948173	chr12:118624736-118624737	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564992754	chr12:118624751-118624752	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75752792	chr12:118624810-118624811	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs75571641	chr12:118624817-118624818	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560485316	chr12:118624859-118624860	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74973933	chr12:118624870-118624871	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549470066	chr12:118624928-118624929	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569476318	chr12:118624973-118624974	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531771594	chr12:118625003-118625004	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs115215542	chr12:118625018-118625019	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190610077	chr12:118625019-118625020	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140021973	chr12:118625062-118625063	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534482873	chr12:118625074-118625075	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553384691	chr12:118625107-118625108	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566890085	chr12:118625109-118625110	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564313223	chr12:118625116-118625117	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150053727	chr12:118625128-118625129	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535966710	chr12:118625138-118625139	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs794719	chr12:118625217-118625218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112479871	chr12:118625221-118625222	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs383371	chr12:118625251-118625252	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs115391668	chr12:118625319-118625320	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558714562	chr12:118625337-118625338	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181139122	chr12:118625366-118625367	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200128914	chr12:118625402-118625403	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528854738	chr12:118625411-118625412	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75365541	chr12:118625434-118625435	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185322839	chr12:118625467-118625468	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs574804435	chr12:118625515-118625516	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs191496356	chr12:118625657-118625658	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529256556	chr12:118625687-118625688	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs559602938	chr12:118625746-118625747	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149819204	chr12:118625755-118625756	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569635978	chr12:118625800-118625801	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541942368	chr12:118625819-118625820	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs182350691	chr12:118625856-118625857	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531826185	chr12:118625876-118625877	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551713704	chr12:118625906-118625907	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571794959	chr12:118625933-118625934	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs527991054	chr12:118625940-118625941	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373408720	chr12:118625974-118625975	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528803057	chr12:118625989-118625990	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs551559404	chr12:118626018-118626019	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187895624	chr12:118626038-118626039	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs12820035	chr12:118626042-118626043	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs535807557	chr12:118626051-118626052	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537258425	chr12:118626100-118626101	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs555733850	chr12:118626241-118626242	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535559383	chr12:118626428-118626429	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs191942473	chr12:118626436-118626437	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:2177 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:118599800-118625600	Weak transcription	Pancreas	Pancrea
3	chr12:118603600-118625400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:118610600-118625400	Weak transcription	Psoas Muscle	Psoas
5	chr12:118610600-118627600	Weak transcription	Esophagus	oesophagus
6	chr12:118612400-118626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:118614400-118625600	Weak transcription	Right Ventricle	heart
8	chr12:118615200-118625400	Weak transcription	K562	blood
9	chr12:118617200-118625600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:118617200-118625600	Weak transcription	NH-A	brain
11	chr12:118617200-118634400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:118617400-118625400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:118619200-118625000	Weak transcription	Aorta	Aorta
14	chr12:118619200-118625600	Weak transcription	Placenta	Placenta
15	chr12:118619200-118626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:118619200-118627600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:118619200-118638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:118619400-118625400	Weak transcription	HSMMtube	muscle
19	chr12:118619400-118625600	Weak transcription	Ovary	ovary
20	chr12:118619400-118626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:118619400-118626600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:118619400-118626600	Weak transcription	Left Ventricle	heart
23	chr12:118619400-118626800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:118619400-118626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:118619400-118627400	Weak transcription	Lung	lung
26	chr12:118619400-118627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:118619400-118627600	Weak transcription	Colonic Mucosa	Colon
28	chr12:118619400-118635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:118619400-118635800	Weak transcription	Gastric	stomach
30	chr12:118619400-118635800	Weak transcription	Spleen	Spleen
31	chr12:118619600-118624800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:118619600-118625400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:118619600-118625400	Weak transcription	Primary T cells from cord blood	blood
34	chr12:118619600-118625400	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:118619600-118625400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:118619600-118625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:118619600-118625600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:118619600-118625600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:118619600-118625600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:118619600-118625600	Weak transcription	Thymus	Thymus
41	chr12:118619600-118631000	Weak transcription	Fetal Thymus	thymus
42	chr12:118619600-118632800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:118619600-118635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:118619800-118625400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:118619800-118625800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:118620200-118625400	Weak transcription	Brain Germinal Matrix	brain
47	chr12:118620200-118625600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:118620200-118625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:118620200-118626600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:118620200-118627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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