Variant report

Variant	esv3375447
Chromosome Location	chr14:71274499-71276497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:432)
CpG islands
(count:551)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:71276464-71276848	HepG2	liver:	n/a	n/a
2	ATF2	chr14:71276357-71276899	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr14:71276398-71276876	GM12878	blood:	n/a	n/a
4	BHLHE40	chr14:71276433-71276748	K562	blood:	n/a	n/a
5	BHLHE40	chr14:71276368-71276964	HepG2	liver:	n/a	n/a
6	BRCA1	chr14:71275973-71276173	GM12878	blood:	n/a	n/a
7	BRCA1	chr14:71276051-71276210	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr14:71275954-71276751	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr14:71276027-71276183	HepG2	liver:	n/a	n/a
10	CCNT2	chr14:71276063-71276584	K562	blood:	n/a	chr14:71276242-71276251 chr14:71276297-71276306
11	CEBPB	chr14:71275148-71275362	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr14:71274605-71274864	HepG2	liver:	n/a	n/a
13	CEBPB	chr14:71274641-71275231	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPD	chr14:71276065-71276538	HepG2	liver:	n/a	n/a
15	CEBPD	chr14:71275306-71275601	HepG2	liver:	n/a	n/a
16	CHD1	chr14:71274682-71275300	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr14:71275566-71275695	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr14:71275896-71276786	HepG2	liver:	n/a	chr14:71276130-71276140
19	CHD2	chr14:71274916-71276930	Hela-S3	cervix:	n/a	chr14:71276130-71276140
20	CHD2	chr14:71275896-71276807	H1-hESC	embryonic stem cell:	n/a	chr14:71276130-71276140
21	CHD2	chr14:71275909-71276813	GM12878	blood:	n/a	chr14:71276130-71276140
22	CHD2	chr14:71275884-71276692	K562	blood:	n/a	chr14:71276130-71276140
23	CREB1	chr14:71275916-71276769	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr14:71275276-71275786	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr14:71276038-71276968	HepG2	liver:	n/a	n/a
26	CREB1	chr14:71275772-71276781	A549	lung:	n/a	n/a
27	CREB1	chr14:71275297-71275694	A549	lung:	n/a	n/a
28	CREB1	chr14:71275985-71276783	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr14:71275835-71276781	GM12878	blood:	n/a	n/a
30	CREB1	chr14:71276227-71276799	ECC-1	luminal epithelium:	n/a	n/a
31	CTBP2	chr14:71276040-71276935	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr14:71275920-71276070	GM12872	blood:	n/a	n/a
33	CTCF	chr14:71276020-71276170	SK-N-SH_RA	brain:	n/a	chr14:71276138-71276151
34	CTCF	chr14:71275940-71276090	SAEC	small airway:	n/a	n/a
35	CTCF	chr14:71275618-71275694	MCF-7	breast:	n/a	n/a
36	CTCF	chr14:71275940-71276090	AG04449	skin:	n/a	n/a
37	CTCF	chr14:71275960-71276110	GM12867	blood:	n/a	n/a
38	CTCF	chr14:71275940-71276090	HMEC	breast:	n/a	n/a
39	CTCF	chr14:71275940-71276090	GM12875	blood:	n/a	n/a
40	CTCF	chr14:71275680-71275830	AG04449	skin:	n/a	n/a
41	CTCF	chr14:71276020-71276170	SAEC	small airway:	n/a	chr14:71276138-71276151
42	CTCF	chr14:71276000-71276150	GM12866	blood:	n/a	n/a
43	CTCF	chr14:71276000-71276150	GM12871	blood:	n/a	n/a
44	CTCF	chr14:71275500-71275650	GM12874	blood:	n/a	n/a
45	CTCF	chr14:71276245-71276301	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr14:71276067-71276123	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr14:71275980-71276130	GM12869	blood:	n/a	n/a
48	CTCF	chr14:71275622-71275723	MCF-7	breast:	n/a	n/a
49	CTCF	chr14:71276401-71276616	GM12878	blood:	n/a	chr14:71276589-71276602
50	CTCF	chr14:71275661-71275669	GM12892	blood:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71275920-71275970	T-47D	breast:	n/a
2	chr14:71275631-71275681	HL-60	blood:	n/a
3	chr14:71275920-71275970	T-47D	breast:	n/a
4	chr14:71275631-71275681	HL-60	blood:	n/a
5	chr14:71275920-71275970	HNPCEpiC	eye:	n/a
6	chr14:71275942-71275992	Hepatocyte	liver:	n/a
7	chr14:71275936-71275986	U87	brain:	n/a
8	chr14:71275911-71275961	HIPEpiC	eye:	n/a
9	chr14:71276396-71276446	RPTEC	kidney:	n/a
10	chr14:71275920-71275970	NT2-D1	testis:	n/a
11	chr14:71276396-71276446	HL-60	blood:	n/a
12	chr14:71275911-71275961	RPTEC	kidney:	n/a
13	chr14:71275917-71275967	CMK	blood:	n/a
14	chr14:71275920-71275970	AG10803	skin:	n/a
15	chr14:71275530-71275580	SK-N-MC	brain:	n/a
16	chr14:71275530-71275580	MCF10A-Er-Src	breast:	n/a
17	chr14:71275911-71275961	GM19239	blood:	n/a
18	chr14:71275530-71275580	SK-N-SH_RA	brain:	n/a
19	chr14:71275530-71275580	AG10803	skin:	n/a
20	chr14:71275920-71275970	U87	brain:	n/a
21	chr14:71275936-71275986	ovcar-3	ovarian:	n/a
22	chr14:71275530-71275580	PrEC	prostate:	n/a
23	chr14:71275911-71275961	HRE	kidney:	n/a
24	chr14:71275936-71275986	GM12892	blood:	n/a
25	chr14:71276396-71276446	Hepatocyte	liver:	n/a
26	chr14:71275920-71275970	BJ	skin:	n/a
27	chr14:71275300-71275350	HRCEpiC	kidney:	n/a
28	chr14:71275936-71275986	HNPCEpiC	eye:	n/a
29	chr14:71275530-71275580	BE2_C	brain:	n/a
30	chr14:71275942-71275992	HL-60	blood:	n/a
31	chr14:71276396-71276446	AG10803	skin:	n/a
32	chr14:71275920-71275970	NHBE	bronchial:	n/a
33	chr14:71275936-71275986	HIPEpiC	eye:	n/a
34	chr14:71275300-71275350	AoSMC	blood vessel:	n/a
35	chr14:71275920-71275970	HUVEC	blood vessel:	n/a
36	chr14:71276396-71276446	SK-N-MC	brain:	n/a
37	chr14:71275942-71275992	HRCEpiC	kidney:	n/a
38	chr14:71275920-71275970	ProgFib	skin:	n/a
39	chr14:71275942-71275992	HUVEC	blood vessel:	n/a
40	chr14:71275530-71275580	NT2-D1	testis:	n/a
41	chr14:71275911-71275961	SKMC	muscle:	n/a
42	chr14:71275530-71275580	AoSMC	blood vessel:	n/a
43	chr14:71275942-71275992	H1-hESC	embryonic stem cell:	embryo
44	chr14:71275936-71275986	SAEC	small airway:	n/a
45	chr14:71275530-71275580	IMR90	lung:	fetal
46	chr14:71275942-71275992	IMR90	lung:	fetal
47	chr14:71275942-71275992	SK-N-SH_RA	brain:	n/a
48	chr14:71275631-71275681	NHBE	bronchial:	n/a
49	chr14:71275300-71275350	SKMC	muscle:	n/a
50	chr14:71275631-71275681	NT2-D1	testis:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
2	chr12:53399239..53400858-chr14:71275577..71277135,2	MCF-7	breast:
3	chr14:71076190..71078982-chr14:71275139..71277878,2	MCF-7	breast:
4	chr14:71273334..71275325-chr14:71487514..71489742,2	MCF-7	breast:
5	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
6	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
7	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
8	chr14:71108262..71108946-chr14:71275849..71276515,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259153	TF binding region
MAP3K9	TF binding region
ENSG00000259153	CpG island
MAP3K9	CpG island
ENSG00000245466	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000259115	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000006432	chromatin interactions
ENSG00000240837	chromatin interactions
ENSG00000133985	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186712222	chr14:71274500-71274501	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189493575	chr14:71274547-71274548	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10873243	chr14:71274579-71274580	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs576409444	chr14:71274607-71274608	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs561917707	chr14:71274637-71274638	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs7155910	chr14:71274677-71274678	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs7156877	chr14:71274689-71274690	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559999657	chr14:71274703-71274704	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs11158882	chr14:71274722-71274723	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs552125744	chr14:71274728-71274729	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs570332182	chr14:71274730-71274731	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs10148854	chr14:71274741-71274742	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548993825	chr14:71274807-71274808	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs148472998	chr14:71274874-71274875	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs534753758	chr14:71274914-71274915	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs552608167	chr14:71275026-71275027	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs541191917	chr14:71275149-71275150	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs181615778	chr14:71275153-71275154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs564721648	chr14:71275157-71275158	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs559817814	chr14:71275158-71275159	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs533232648	chr14:71275160-71275161	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs575189520	chr14:71275162-71275163	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs71105737	chr14:71275163-71275164	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs551760440	chr14:71275188-71275189	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs542535661	chr14:71275258-71275259	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs8022410	chr14:71275323-71275324	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573912041	chr14:71275364-71275365	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs141851702	chr14:71275379-71275380	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs559858230	chr14:71275413-71275414	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs533583808	chr14:71275428-71275429	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs200938630	chr14:71275475-71275476	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs140002370	chr14:71275520-71275521	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs563853687	chr14:71275538-71275539	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs531286700	chr14:71275544-71275545	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs549400463	chr14:71275545-71275546	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs567260112	chr14:71275561-71275562	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs534274868	chr14:71275579-71275580	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs374040206	chr14:71275624-71275625	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs377295870	chr14:71275635-71275636	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs370802446	chr14:71275646-71275647	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs375924262	chr14:71275649-71275650	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs546308687	chr14:71275655-71275656	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs368502639	chr14:71275730-71275731	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs372951506	chr14:71275731-71275732	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs199678931	chr14:71275764-71275765	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs200801204	chr14:71275773-71275774	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs397840789	chr14:71275774-71275775	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs201322413	chr14:71275776-71275777	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs36280	chr14:71275810-71275811	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs556765976	chr14:71275913-71275914	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
2	chr14:71247800-71274600	Weak transcription	Stomach Mucosa	stomach
3	chr14:71249400-71274600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:71249600-71274600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:71249800-71274600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:71257200-71274600	Weak transcription	Brain Anterior Caudate	brain
7	chr14:71257200-71274600	Weak transcription	Spleen	Spleen
8	chr14:71257800-71274800	Weak transcription	Colonic Mucosa	Colon
9	chr14:71259000-71274600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:71260000-71274800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:71261200-71274600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:71265000-71274600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:71265200-71274600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:71265800-71274600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:71267400-71274600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:71267600-71274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:71267600-71274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:71267600-71274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:71267600-71274600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:71267600-71274600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:71267600-71274600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:71267800-71274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:71267800-71274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:71267800-71274600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:71268000-71274600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:71268800-71274600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:71268800-71274600	Weak transcription	Fetal Intestine Small	intestine
28	chr14:71268800-71274600	Weak transcription	Pancreas	Pancrea
29	chr14:71268800-71275000	Weak transcription	Gastric	stomach
30	chr14:71269200-71274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:71269200-71274800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:71269800-71274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:71270000-71274600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:71271000-71274600	Weak transcription	Liver	Liver
35	chr14:71271000-71274600	Weak transcription	Brain Angular Gyrus	brain
36	chr14:71271000-71274600	Weak transcription	Placenta	Placenta
37	chr14:71272000-71274600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:71272800-71274600	Enhancers	HepG2	liver
39	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:71274200-71275000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:71274200-71279400	Active TSS	HMEC	breast
43	chr14:71274400-71274600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:71274400-71274600	Enhancers	Primary B cells from peripheral blood	blood
45	chr14:71274400-71274600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr14:71274400-71274600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:71274400-71274600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr14:71274400-71274600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr14:71274400-71274600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr14:71274400-71274600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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