Variant report

Variant	esv3436338
Chromosome Location	chr12:122709824-122712372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:711)
CpG islands
(count:793)
Chromatin interactive
region (count:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122710410-122710525	K562	blood:	n/a	n/a
2	ARID3A	chr12:122710357-122710654	HepG2	liver:	n/a	n/a
3	ATF1	chr12:122710372-122710990	K562	blood:	n/a	n/a
4	ATF2	chr12:122710914-122711237	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:122710249-122710777	GM12878	blood:	n/a	n/a
6	ATF2	chr12:122710935-122711225	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr12:122710414-122710693	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr12:122710350-122710904	K562	blood:	n/a	n/a
9	ATF3	chr12:122710230-122710780	A549	lung:	n/a	n/a
10	BACH1	chr12:122710726-122710842	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr12:122710187-122710888	A549	lung:	n/a	chr12:122710591-122710600 chr12:122710495-122710508
12	BCL3	chr12:122709894-122710899	A549	lung:	n/a	chr12:122710591-122710600 chr12:122710495-122710508
13	BCLAF1	chr12:122710015-122710780	GM12878	blood:	n/a	chr12:122710591-122710600 chr12:122710495-122710508
14	BCLAF1	chr12:122710948-122711224	GM12878	blood:	n/a	n/a
15	BCLAF1	chr12:122710224-122710825	GM12878	blood:	n/a	chr12:122710591-122710600 chr12:122710495-122710508
16	BHLHE40	chr12:122710325-122711251	HepG2	liver:	n/a	n/a
17	BHLHE40	chr12:122710986-122711220	GM12878	blood:	n/a	n/a
18	BHLHE40	chr12:122710393-122710774	GM12878	blood:	n/a	n/a
19	BHLHE40	chr12:122710370-122711291	K562	blood:	n/a	n/a
20	BRCA1	chr12:122710401-122710744	HepG2	liver:	n/a	n/a
21	BRCA1	chr12:122710434-122710879	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr12:122711084-122711298	HepG2	liver:	n/a	n/a
23	BRCA1	chr12:122710508-122710730	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr12:122710174-122710612	GM12878	blood:	n/a	n/a
25	CBX3	chr12:122710070-122711407	K562	blood:	n/a	n/a
26	CBX3	chr12:122710935-122711256	K562	blood:	n/a	n/a
27	CCNT2	chr12:122710326-122711245	K562	blood:	n/a	n/a
28	CEBPB	chr12:122710457-122710688	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr12:122710446-122710818	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr12:122710667-122710720	IMR90	lung:	n/a	n/a
31	CEBPD	chr12:122710339-122710761	HepG2	liver:	n/a	n/a
32	CEBPD	chr12:122710391-122710679	HepG2	liver:	n/a	n/a
33	CHD1	chr12:122710132-122710605	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr12:122710046-122710770	GM12878	blood:	n/a	chr12:122710647-122710657
35	CHD2	chr12:122710287-122711032	Hela-S3	cervix:	n/a	chr12:122710647-122710657
36	CHD2	chr12:122710352-122711229	H1-hESC	embryonic stem cell:	n/a	chr12:122710647-122710657
37	CHD2	chr12:122710397-122711245	K562	blood:	n/a	chr12:122710647-122710657
38	CHD2	chr12:122710261-122711242	HepG2	liver:	n/a	chr12:122710647-122710657
39	CHD2	chr12:122710150-122711173	GM12878	blood:	n/a	chr12:122710647-122710657
40	CREB1	chr12:122710409-122710907	A549	lung:	n/a	n/a
41	CREB1	chr12:122710268-122711297	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr12:122710163-122711335	K562	blood:	n/a	n/a
43	CREB1	chr12:122710113-122711287	HepG2	liver:	n/a	n/a
44	CREB1	chr12:122710049-122711388	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr12:122709886-122711262	GM12878	blood:	n/a	n/a
46	CREB1	chr12:122710294-122711085	ECC-1	luminal epithelium:	n/a	n/a
47	CREB1	chr12:122709961-122711271	HepG2	liver:	n/a	n/a
48	CREB1	chr12:122710034-122711382	K562	blood:	n/a	n/a
49	CREB1	chr12:122710296-122710918	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr12:122710030-122711228	A549	lung:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122710569-122710619	PANC-1	pancreas:	n/a
2	chr12:122712212-122712262	HCF	heart:	n/a
3	chr12:122712075-122712125	Hela-S3	cervix:	n/a
4	chr12:122712093-122712143	NH-A	brain:	n/a
5	chr12:122712116-122712166	SAEC	small airway:	n/a
6	chr12:122712137-122712187	HNPCEpiC	eye:	n/a
7	chr12:122712212-122712262	BE2_C	brain:	n/a
8	chr12:122711988-122712038	NB4	blood:	n/a
9	chr12:122710630-122710680	ECC-1	luminal epithelium:	n/a
10	chr12:122711188-122711238	ProgFib	skin:	n/a
11	chr12:122712212-122712262	ECC-1	luminal epithelium:	n/a
12	chr12:122712212-122712262	AG09309	skin:	n/a
13	chr12:122712093-122712143	AG10803	skin:	n/a
14	chr12:122710506-122710556	PFSK-1	brain:	n/a
15	chr12:122712101-122712151	SK-N-SH	brain:	n/a
16	chr12:122712093-122712143	BJ	skin:	n/a
17	chr12:122712075-122712125	ECC-1	luminal epithelium:	n/a
18	chr12:122711988-122712038	ECC-1	luminal epithelium:	n/a
19	chr12:122711988-122712038	IMR90	lung:	fetal
20	chr12:122710630-122710680	BE2_C	brain:	n/a
21	chr12:122712093-122712143	T-47D	breast:	n/a
22	chr12:122711988-122712038	HL-60	blood:	n/a
23	chr12:122710569-122710619	BJ	skin:	n/a
24	chr12:122712137-122712187	HCM	heart:	n/a
25	chr12:122711988-122712038	CMK	blood:	n/a
26	chr12:122712093-122712143	Hepatocyte	liver:	n/a
27	chr12:122712075-122712125	HCF	heart:	n/a
28	chr12:122712075-122712125	Jurkat	blood:	n/a
29	chr12:122710569-122710619	GM12892	blood:	n/a
30	chr12:122710290-122710340	PrEC	prostate:	n/a
31	chr12:122711988-122712038	AG04450	lung:	fetal
32	chr12:122712093-122712143	H1-hESC	embryonic stem cell:	embryo
33	chr12:122710290-122710340	PFSK-1	brain:	n/a
34	chr12:122712212-122712262	HCPEpiC	choroid plexus:	n/a
35	chr12:122710506-122710556	HEK293	kidney:	embryo
36	chr12:122710630-122710680	SAEC	small airway:	n/a
37	chr12:122711988-122712038	HMEC	breast:	n/a
38	chr12:122712212-122712262	HL-60	blood:	n/a
39	chr12:122711188-122711238	GM19239	blood:	n/a
40	chr12:122710506-122710556	Hela-S3	cervix:	n/a
41	chr12:122711188-122711238	NH-A	brain:	n/a
42	chr12:122710290-122710340	CMK	blood:	n/a
43	chr12:122710630-122710680	IMR90	lung:	fetal
44	chr12:122710630-122710680	MCF10A-Er-Src	breast:	n/a
45	chr12:122711188-122711238	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:122712101-122712151	ovcar-3	ovarian:	n/a
47	chr12:122710569-122710619	PrEC	prostate:	n/a
48	chr12:122710569-122710619	NHBE	bronchial:	n/a
49	chr12:122712093-122712143	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:122711188-122711238	HAEpiC	amniotic membrane:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150208031..150209020-chr12:122709773..122710769,2	Hela-S3	cervix:
2	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:
3	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:
4	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:
5	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
6	chr12:122709233..122712275-chr12:123010129..123013029,3	K562	blood:
7	chr12:110906213..110906741-chr12:122709976..122710701,2	Hela-S3	cervix:
8	chr12:122326249..122328617-chr12:122709300..122711997,3	K562	blood:
9	chr12:122710527..122712234-chr12:123464292..123467088,2	K562	blood:
10	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:
11	chr12:122707574..122711015-chr12:122711233..122714440,3	K562	blood:
12	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
13	chr12:122500582..122502738-chr12:122708130..122710378,2	K562	blood:
14	chr12:122709020..122710648-chr12:122761773..122763622,2	MCF-7	breast:
15	chr12:122709035..122711225-chr12:122749359..122751433,5	MCF-7	breast:
16	chr12:122707574..122711015-chr12:122711233..122714440,3	K562	blood:
17	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
18	chr12:122708733..122710443-chr12:122749529..122751425,2	MCF-7	breast:
19	chr12:122237205..122238947-chr12:122709096..122710729,2	K562	blood:
20	chr12:122674327..122677306-chr12:122708798..122710323,2	K562	blood:
21	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:
22	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GNT4-3	chr12:122710989-122713339	NONHSAT031500
2	lnc-DIABLO-1	chr12:122710763-122711115	NONHSAT031499
3	lnc-DIABLO-1	chr12:122711903-122712080	NONHSAT031499

No data

Variant related genes	Relation type
DIABLO	TF binding region
DIABLO	CpG island
ENSG00000130779	chromatin interactions
ENSG00000256861	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000204856	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000111231	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000176383	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000158113	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000256546	chromatin interactions
ENSG00000139719	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000150967	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576616311	chr12:122709841-122709842	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs576361960	chr12:122709902-122709903	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs545698650	chr12:122709908-122709909	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs187210341	chr12:122709911-122709912	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs142882143	chr12:122709919-122709920	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs562405081	chr12:122709939-122709940	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs530828321	chr12:122709958-122709959	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs192504836	chr12:122709969-122709970	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs558763614	chr12:122709991-122709992	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs553653422	chr12:122710022-122710023	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs544568594	chr12:122710033-122710034	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs561105844	chr12:122710049-122710050	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs117131740	chr12:122710092-122710093	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs557420508	chr12:122710127-122710128	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs872494	chr12:122710169-122710170	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544477107	chr12:122710190-122710191	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs114187204	chr12:122710194-122710195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs371890429	chr12:122710197-122710198	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs543078582	chr12:122710256-122710257	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs150657838	chr12:122710278-122710279	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs573596775	chr12:122710313-122710314	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs138058316	chr12:122710335-122710336	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs5801477	chr12:122710341-122710342	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs546769425	chr12:122710366-122710367	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs182193382	chr12:122710370-122710371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs533152366	chr12:122710395-122710396	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs551648994	chr12:122710430-122710431	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs563479646	chr12:122710453-122710454	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs530872002	chr12:122710498-122710499	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs372776075	chr12:122710507-122710508	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs76582402	chr12:122710514-122710515	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs373013757	chr12:122710521-122710522	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs201238806	chr12:122710531-122710532	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs370060703	chr12:122710534-122710535	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs139511903	chr12:122710543-122710544	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs202028496	chr12:122710554-122710555	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs199867647	chr12:122710556-122710557	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs538842097	chr12:122710565-122710566	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs376530914	chr12:122710572-122710573	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs1290150	chr12:122710582-122710583	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs575804286	chr12:122710583-122710584	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs536711654	chr12:122710607-122710608	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs532792133	chr12:122710658-122710659	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs573541996	chr12:122710668-122710669	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs532706528	chr12:122710720-122710721	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs541062326	chr12:122710740-122710741	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs147128668	chr12:122710770-122710771	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
48	rs559684241	chr12:122710787-122710788	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
49	rs577964364	chr12:122710809-122710810	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
50	rs545335337	chr12:122710814-122710815	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122709000-122710200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:122709000-122710200	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr12:122709000-122710200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr12:122709000-122710600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr12:122709200-122710000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:122709200-122710000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122709200-122710000	Flanking Active TSS	Brain Substantia Nigra	brain
8	chr12:122709200-122710000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:122709200-122710200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:122709200-122710400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr12:122709200-122710800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:122709200-122711200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:122709200-122711400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:122709200-122711400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:122709200-122711400	Active TSS	Fetal Kidney	kidney
16	chr12:122709200-122711400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:122709400-122710000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:122709400-122710000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr12:122709400-122710000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr12:122709400-122710000	Active TSS	HepG2	liver
21	chr12:122709400-122710200	Flanking Active TSS	Placenta	Placenta
22	chr12:122709400-122710200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr12:122709400-122710200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:122709400-122710600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:122709400-122710600	Active TSS	HSMMtube	muscle
26	chr12:122709400-122711000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:122709400-122711000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:122709400-122711000	Active TSS	HMEC	breast
29	chr12:122709400-122711000	Active TSS	HSMM	muscle
30	chr12:122709400-122711000	Active TSS	NHLF	lung
31	chr12:122709400-122711200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:122709400-122711200	Active TSS	NHDF-Ad	bronchial
33	chr12:122709400-122711400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:122709400-122711400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:122709400-122711400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:122709400-122711400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:122709400-122711600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:122709600-122710000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:122709600-122710000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:122709600-122710000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:122709600-122710000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:122709600-122710000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:122709600-122710000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:122709600-122710000	Flanking Active TSS	Fetal Lung	lung
45	chr12:122709600-122710000	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr12:122709600-122710000	Flanking Active TSS	Fetal Stomach	stomach
47	chr12:122709600-122710000	Weak transcription	Stomach Mucosa	stomach
48	chr12:122709600-122710000	Flanking Active TSS	Thymus	Thymus
49	chr12:122709600-122710200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr12:122709600-122710200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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