Variant report

Variant	nsv560494
Chromosome Location	chr12:123478378-123560731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1382)
CpG islands
(count:1221)
Chromatin interactive
region (count:179)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1382 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123503552-123503904	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123484544-123484545	K562	blood:	n/a	n/a
3	ARID3A	chr12:123547002-123547854	HepG2	liver:	n/a	n/a
4	ATF1	chr12:123518089-123518884	K562	blood:	n/a	n/a
5	ATF2	chr12:123477871-123478411	GM12878	blood:	n/a	n/a
6	ATF2	chr12:123477732-123478417	GM12878	blood:	n/a	n/a
7	ATF3	chr12:123518180-123518433	K562	blood:	n/a	n/a
8	BACH1	chr12:123540704-123540780	K562	blood:	n/a	chr12:123540714-123540728
9	BACH1	chr12:123528015-123528331	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr12:123477739-123478378	GM12878	blood:	n/a	n/a
11	BATF	chr12:123477946-123478402	GM12878	blood:	n/a	n/a
12	BCL11A	chr12:123477972-123478381	GM12878	blood:	n/a	chr12:123478340-123478349
13	BCLAF1	chr12:123477931-123478415	GM12878	blood:	n/a	chr12:123478340-123478349
14	BHLHE40	chr12:123518617-123518861	K562	blood:	n/a	n/a
15	BHLHE40	chr12:123528082-123528356	HepG2	liver:	n/a	n/a
16	BHLHE40	chr12:123484560-123484641	K562	blood:	n/a	n/a
17	BHLHE40	chr12:123506789-123507093	K562	blood:	n/a	n/a
18	BHLHE40	chr12:123484919-123485019	K562	blood:	n/a	n/a
19	BHLHE40	chr12:123547383-123547394	K562	blood:	n/a	n/a
20	BHLHE40	chr12:123540738-123540901	K562	blood:	n/a	n/a
21	BHLHE40	chr12:123528061-123528318	K562	blood:	n/a	n/a
22	BHLHE40	chr12:123528063-123528215	GM12878	blood:	n/a	n/a
23	BHLHE40	chr12:123477738-123478404	GM12878	blood:	n/a	n/a
24	BHLHE40	chr12:123560448-123560688	GM12878	blood:	n/a	n/a
25	BRCA1	chr12:123547123-123547701	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr12:123528053-123528230	HepG2	liver:	n/a	n/a
27	BRCA1	chr12:123528173-123528284	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr12:123517822-123519051	K562	blood:	n/a	n/a
29	CBX3	chr12:123540535-123540911	K562	blood:	n/a	n/a
30	CBX3	chr12:123547294-123547646	K562	blood:	n/a	n/a
31	CCNT2	chr12:123521106-123521371	K562	blood:	n/a	n/a
32	CCNT2	chr12:123518199-123518979	K562	blood:	n/a	chr12:123518776-123518796
33	CCNT2	chr12:123485150-123485278	K562	blood:	n/a	n/a
34	CEBPB	chr12:123531006-123531133	HepG2	liver:	n/a	chr12:123531054-123531065
35	CEBPB	chr12:123532448-123532758	K562	blood:	n/a	n/a
36	CEBPB	chr12:123503589-123503848	ECC-1	luminal epithelium:	n/a	chr12:123503684-123503695
37	CEBPB	chr12:123523851-123524044	A549	lung:	n/a	chr12:123523931-123523944
38	CEBPB	chr12:123503522-123503869	HepG2	liver:	n/a	chr12:123503684-123503695
39	CEBPB	chr12:123515546-123515776	HepG2	liver:	n/a	chr12:123515614-123515625
40	CEBPB	chr12:123549657-123549687	K562	blood:	n/a	n/a
41	CEBPB	chr12:123503603-123503918	MCF-7	breast:	n/a	chr12:123503684-123503695
42	CEBPB	chr12:123528062-123528264	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr12:123503525-123503851	Hela-S3	cervix:	n/a	chr12:123503684-123503695
44	CEBPB	chr12:123535488-123535817	K562	blood:	n/a	chr12:123535628-123535641
45	CEBPB	chr12:123515471-123515757	A549	lung:	n/a	chr12:123515614-123515625
46	CEBPB	chr12:123518190-123518574	K562	blood:	n/a	n/a
47	CEBPB	chr12:123547121-123547769	HepG2	liver:	n/a	n/a
48	CEBPB	chr12:123503498-123503946	HepG2	liver:	n/a	chr12:123503684-123503695
49	CEBPB	chr12:123515473-123515787	IMR90	lung:	n/a	chr12:123515614-123515625
50	CEBPB	chr12:123530924-123531178	IMR90	lung:	n/a	chr12:123531054-123531065

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123483385-123483435	GM12878	blood:	n/a
2	chr12:123483385-123483435	GM12878	blood:	n/a
3	chr12:123481960-123482010	BE2_C	brain:	n/a
4	chr12:123503709-123503759	HL-60	blood:	n/a
5	chr12:123483385-123483435	GM12891	blood:	n/a
6	chr12:123560479-123560529	HAEpiC	amniotic membrane:	n/a
7	chr12:123485314-123485364	Jurkat	blood:	n/a
8	chr12:123503709-123503759	RPTEC	kidney:	n/a
9	chr12:123481891-123481941	Caco-2	colon:	n/a
10	chr12:123481960-123482010	HEK293	kidney:	embryo
11	chr12:123485314-123485364	HL-60	blood:	n/a
12	chr12:123518888-123518938	IMR90	lung:	fetal
13	chr12:123491781-123491831	SKMC	muscle:	n/a
14	chr12:123519476-123519526	BE2_C	brain:	n/a
15	chr12:123483385-123483435	HCM	heart:	n/a
16	chr12:123481574-123481624	PrEC	prostate:	n/a
17	chr12:123527156-123527206	H1-hESC	embryonic stem cell:	embryo
18	chr12:123519476-123519526	HEK293	kidney:	embryo
19	chr12:123555535-123555585	H1-hESC	embryonic stem cell:	embryo
20	chr12:123560479-123560529	RPTEC	kidney:	n/a
21	chr12:123519157-123519207	AG04450	lung:	fetal
22	chr12:123481935-123481985	NH-A	brain:	n/a
23	chr12:123503709-123503759	NHDF-neo	bronchial:	n/a
24	chr12:123481574-123481624	K562	blood:	n/a
25	chr12:123479583-123479633	HEEpiC	esophagus:	n/a
26	chr12:123482053-123482103	MCF10A-Er-Src	breast:	n/a
27	chr12:123527156-123527206	GM19239	blood:	n/a
28	chr12:123491781-123491831	NT2-D1	testis:	n/a
29	chr12:123519157-123519207	HCM	heart:	n/a
30	chr12:123535067-123535117	AoSMC	blood vessel:	n/a
31	chr12:123548027-123548077	SAEC	small airway:	n/a
32	chr12:123483385-123483435	BJ	skin:	n/a
33	chr12:123485314-123485364	CMK	blood:	n/a
34	chr12:123518833-123518883	HCF	heart:	n/a
35	chr12:123555535-123555585	NH-A	brain:	n/a
36	chr12:123548027-123548077	T-47D	breast:	n/a
37	chr12:123482053-123482103	ECC-1	luminal epithelium:	n/a
38	chr12:123483385-123483435	HNPCEpiC	eye:	n/a
39	chr12:123482053-123482103	PANC-1	pancreas:	n/a
40	chr12:123482002-123482052	K562	blood:	n/a
41	chr12:123481935-123481985	HIPEpiC	eye:	n/a
42	chr12:123485314-123485364	SAEC	small airway:	n/a
43	chr12:123485314-123485364	HCPEpiC	choroid plexus:	n/a
44	chr12:123503709-123503759	IMR90	lung:	fetal
45	chr12:123481574-123481624	HAEpiC	amniotic membrane:	n/a
46	chr12:123519157-123519207	T-47D	breast:	n/a
47	chr12:123479583-123479633	HCPEpiC	choroid plexus:	n/a
48	chr12:123519157-123519207	AG09319	gingival:	n/a
49	chr12:123481891-123481941	HCPEpiC	choroid plexus:	n/a
50	chr12:123481574-123481624	AG04449	skin:	fetal

(count:179 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr12:123554110..123555021-chr12:123590854..123591747,3	MCF-7	breast:
2	chr12:123478491..123480718-chr12:123715406..123717168,2	MCF-7	breast:
3	chr12:123544494..123545534-chr12:123553982..123555382,28	MCF-7	breast:
4	chr12:123509701..123511806-chr12:123511971..123514451,2	MCF-7	breast:
5	chr12:123479422..123482791-chr12:123483500..123486744,3	K562	blood:
6	chr12:123493552..123495466-chr12:123498313..123500844,2	K562	blood:
7	chr12:123466130..123468338-chr12:123514919..123517859,3	K562	blood:
8	chr12:123547606..123549243-chr12:123635108..123637286,2	MCF-7	breast:
9	chr12:123527736..123529546-chr12:123540101..123542162,2	K562	blood:
10	chr12:123527596..123531182-chr12:123539339..123542162,4	K562	blood:
11	chr12:123545212..123549412-chr12:123716616..123719797,3	MCF-7	breast:
12	chr12:123507054..123512479-chr12:123514635..123518784,6	K562	blood:
13	chr12:123493966..123496957-chr12:123498313..123500222,2	K562	blood:
14	chr12:123464088..123467689-chr12:123493302..123498202,6	MCF-7	breast:
15	chr12:123527678..123528658-chr12:123634881..123635709,3	MCF-7	breast:
16	chr12:123527949..123530263-chr12:124116742..124119080,2	MCF-7	breast:
17	chr12:123469090..123471551-chr12:123505815..123507895,2	MCF-7	breast:
18	chr12:123488771..123490816-chr12:123491937..123493627,3	K562	blood:
19	chr12:123452570..123455545-chr12:123485965..123487801,2	K562	blood:
20	chr12:123494754..123497414-chr12:123717630..123719730,2	K562	blood:
21	chr12:102091398..102092156-chr12:123554111..123554958,2	MCF-7	breast:
22	chr12:123544510..123545444-chr12:123554166..123554840,5	MCF-7	breast:
23	chr12:123492899..123494796-chr12:123502898..123505077,2	MCF-7	breast:
24	chr12:123477375..123481349-chr12:123715965..123717558,3	K562	blood:
25	chr12:123520702..123523176-chr12:123533102..123535856,2	MCF-7	breast:
26	chr12:123519868..123522613-chr12:123530102..123532042,2	K562	blood:
27	chr12:123558968..123563276-chr12:123716606..123719909,6	MCF-7	breast:
28	chr12:123516372..123518127-chr12:123521257..123523072,2	K562	blood:
29	chr12:123555442..123558076-chr12:123754275..123756423,2	MCF-7	breast:
30	chr12:123504473..123507660-chr12:123511654..123514419,3	K562	blood:
31	chr12:123544642..123548641-chr12:123611003..123613032,3	K562	blood:
32	chr12:123527749..123528657-chr12:123633701..123634611,3	MCF-7	breast:
33	chr12:123554111..123554689-chr12:123579147..123579868,2	MCF-7	breast:
34	chr12:123527304..123529634-chr12:123630952..123633326,2	MCF-7	breast:
35	chr12:123553968..123556453-chr12:123717146..123719567,3	MCF-7	breast:
36	chr12:123550533..123552152-chr12:123560273..123563222,2	MCF-7	breast:
37	chr12:123459591..123461726-chr12:123545171..123548288,3	K562	blood:
38	chr12:123464456..123467046-chr12:123504816..123506514,2	K562	blood:
39	chr12:123494454..123496444-chr12:123516463..123519162,2	K562	blood:
40	chr12:123544510..123545444-chr12:123554166..123554840,5	MCF-7	breast:
41	chr12:123521446..123523784-chr12:123527111..123528952,2	K562	blood:
42	chr12:123504473..123507660-chr12:123511654..123514419,3	K562	blood:
43	chr12:123470251..123473502-chr12:123478198..123482037,4	MCF-7	breast:
44	chr12:123521446..123523784-chr12:123527111..123528952,2	K562	blood:
45	chr12:123490178..123492960-chr12:123494344..123496225,2	K562	blood:
46	chr12:123507054..123512479-chr12:123514635..123518784,6	K562	blood:
47	chr12:123534522..123536134-chr12:123540599..123542732,2	K562	blood:
48	chr12:123491668..123493633-chr12:123498579..123500391,2	K562	blood:
49	chr12:123482581..123485008-chr12:123511167..123512843,2	K562	blood:
50	chr12:123463143..123466030-chr12:123559790..123563075,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL6IP4-2	chr12:123500727-123500976	NONHSAT031559

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4304	chr12:123495249-123495265	MIMAT0016854

No data

Variant related genes	Relation type
PITPNM2	TF binding region
RN7SL133P	TF binding region
MIR4304	TF binding region
PITPNM2	CpG island
RN7SL133P	CpG island
MIR4304	CpG island
ENSG00000251497	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000111666	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000198231	chromatin interactions
ENSG00000265603	chromatin interactions

Extended variants
information (count: 2657 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2657 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11061244	chr12:123478378-123478379	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547884722	chr12:123478409-123478410	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542417278	chr12:123478417-123478418	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548822099	chr12:123478450-123478451	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186706233	chr12:123478473-123478474	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552395408	chr12:123478524-123478525	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142317456	chr12:123478546-123478547	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538173873	chr12:123478609-123478610	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146553488	chr12:123478653-123478654	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549819842	chr12:123478654-123478655	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112077302	chr12:123478664-123478665	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535081585	chr12:123478668-123478669	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191571999	chr12:123478672-123478673	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571852739	chr12:123478708-123478709	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539645068	chr12:123478711-123478712	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558360429	chr12:123478736-123478737	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576651985	chr12:123478803-123478804	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184728661	chr12:123478820-123478821	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146411754	chr12:123478891-123478892	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190037650	chr12:123478899-123478900	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541446940	chr12:123478929-123478930	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369099428	chr12:123479082-123479083	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181488257	chr12:123479104-123479105	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533493671	chr12:123479161-123479162	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552069233	chr12:123479184-123479185	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73411020	chr12:123479279-123479280	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377705091	chr12:123479301-123479302	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370984328	chr12:123479302-123479303	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375499417	chr12:123479309-123479310	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550001024	chr12:123479312-123479313	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368260718	chr12:123479315-123479316	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568021314	chr12:123479318-123479319	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375018853	chr12:123479341-123479342	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369197222	chr12:123479440-123479441	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201638386	chr12:123479488-123479489	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372655253	chr12:123479489-123479490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376175789	chr12:123479513-123479514	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547040089	chr12:123479583-123479584	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141456638	chr12:123479618-123479619	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7968221	chr12:123479623-123479624	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs557586217	chr12:123479658-123479659	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11615292	chr12:123479669-123479670	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536561172	chr12:123479709-123479710	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs570205217	chr12:123479764-123479765	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs58462666	chr12:123479767-123479768	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376210218	chr12:123479832-123479833	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555986670	chr12:123479843-123479844	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs60888713	chr12:123479929-123479930	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370272498	chr12:123479977-123479978	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs373475347	chr12:123479992-123479993	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 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
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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2701 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
3	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
4	chr12:123468000-123486200	Strong transcription	Fetal Brain Female	brain
5	chr12:123468800-123485200	Weak transcription	Aorta	Aorta
6	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
7	chr12:123469400-123479400	Weak transcription	Psoas Muscle	Psoas
8	chr12:123469400-123491600	Weak transcription	HMEC	breast
9	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
10	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:123469600-123484600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:123469800-123485800	Strong transcription	Placenta	Placenta
14	chr12:123469800-123486800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:123469800-123491400	Weak transcription	HSMMtube	muscle
16	chr12:123469800-123491600	Weak transcription	Osteobl	bone
17	chr12:123470000-123480000	Weak transcription	Right Atrium	heart
18	chr12:123470000-123486200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:123470000-123486200	Weak transcription	HSMM	muscle
20	chr12:123470000-123486600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:123470200-123479200	Strong transcription	Fetal Thymus	thymus
22	chr12:123470200-123479800	Strong transcription	Right Ventricle	heart
23	chr12:123470200-123480400	Weak transcription	HepG2	liver
24	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:123470400-123480000	Strong transcription	Left Ventricle	heart
26	chr12:123470400-123482800	Strong transcription	Gastric	stomach
27	chr12:123470400-123483600	Weak transcription	Brain Substantia Nigra	brain
28	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
29	chr12:123470600-123478800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:123470600-123486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:123471600-123484600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:123472000-123499000	Strong transcription	Thymus	Thymus
33	chr12:123472200-123484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:123472400-123480800	Weak transcription	NHEK	skin
35	chr12:123472400-123491400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:123472600-123492800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:123472800-123494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:123472800-123500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:123473000-123479000	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:123473000-123484400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:123473200-123480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:123473200-123481400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:123473200-123483800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:123473200-123484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:123473200-123489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:123473200-123489400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:123473200-123491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:123473400-123479200	Weak transcription	A549	lung
49	chr12:123473400-123479800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:123473400-123480400	Weak transcription	Colon Smooth Muscle	Colon

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