Variant report

Variant	esv3376635
Chromosome Location	chr14:71275024-71277572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:484)
CpG islands
(count:854)
Chromatin interactive
region (count:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr14:71276368-71276964	HepG2	liver:	n/a	n/a
5	BHLHE40	chr14:71276433-71276748	K562	blood:	n/a	n/a
6	BRCA1	chr14:71275973-71276173	GM12878	blood:	n/a	n/a
7	BRCA1	chr14:71276027-71276183	HepG2	liver:	n/a	n/a
8	BRCA1	chr14:71276051-71276210	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr14:71276558-71276723	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr14:71275954-71276751	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr14:71276063-71276584	K562	blood:	n/a	chr14:71276242-71276251 chr14:71276297-71276306
12	CEBPB	chr14:71277368-71277599	HepG2	liver:	n/a	chr14:71277494-71277505
13	CEBPB	chr14:71277298-71277629	HepG2	liver:	n/a	chr14:71277494-71277505
14	CEBPB	chr14:71275148-71275362	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr14:71277389-71277655	HepG2	liver:	n/a	chr14:71277494-71277505
16	CEBPB	chr14:71274641-71275231	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr14:71277347-71277673	H1-hESC	embryonic stem cell:	n/a	chr14:71277494-71277505
18	CEBPD	chr14:71276065-71276538	HepG2	liver:	n/a	n/a
19	CEBPD	chr14:71275306-71275601	HepG2	liver:	n/a	n/a
20	CHD1	chr14:71276525-71276856	GM12878	blood:	n/a	n/a
21	CHD1	chr14:71275566-71275695	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr14:71274682-71275300	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr14:71276579-71277196	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr14:71275909-71276813	GM12878	blood:	n/a	chr14:71276130-71276140
25	CHD2	chr14:71275896-71276786	HepG2	liver:	n/a	chr14:71276130-71276140
26	CHD2	chr14:71274916-71276930	Hela-S3	cervix:	n/a	chr14:71276130-71276140
27	CHD2	chr14:71275884-71276692	K562	blood:	n/a	chr14:71276130-71276140
28	CHD2	chr14:71275896-71276807	H1-hESC	embryonic stem cell:	n/a	chr14:71276130-71276140
29	CREB1	chr14:71275835-71276781	GM12878	blood:	n/a	n/a
30	CREB1	chr14:71275297-71275694	A549	lung:	n/a	n/a
31	CREB1	chr14:71276038-71276968	HepG2	liver:	n/a	n/a
32	CREB1	chr14:71275276-71275786	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr14:71275772-71276781	A549	lung:	n/a	n/a
34	CREB1	chr14:71275985-71276783	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr14:71276227-71276799	ECC-1	luminal epithelium:	n/a	n/a
36	CREB1	chr14:71275916-71276769	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr14:71276040-71276935	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr14:71276401-71276616	GM12878	blood:	n/a	chr14:71276589-71276602
39	CTCF	chr14:71276067-71276123	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr14:71275700-71275850	GM12869	blood:	n/a	n/a
41	CTCF	chr14:71275920-71276070	GM12872	blood:	n/a	n/a
42	CTCF	chr14:71275500-71275650	GM12874	blood:	n/a	n/a
43	CTCF	chr14:71275980-71276130	GM12869	blood:	n/a	n/a
44	CTCF	chr14:71275622-71275723	MCF-7	breast:	n/a	n/a
45	CTCF	chr14:71276000-71276150	GM12871	blood:	n/a	n/a
46	CTCF	chr14:71276245-71276301	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr14:71275940-71276090	AG04449	skin:	n/a	n/a
48	CTCF	chr14:71275940-71276090	GM12875	blood:	n/a	n/a
49	CTCF	chr14:71276440-71276590	GM12871	blood:	n/a	n/a
50	CTCF	chr14:71275260-71275410	GM12875	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71276570-71276620	HL-60	blood:	n/a
2	chr14:71275917-71275967	Caco-2	colon:	n/a
3	chr14:71275942-71275992	NHBE	bronchial:	n/a
4	chr14:71275631-71275681	ECC-1	luminal epithelium:	n/a
5	chr14:71277141-71277191	PFSK-1	brain:	n/a
6	chr14:71275530-71275580	BE2_C	brain:	n/a
7	chr14:71276874-71276924	ECC-1	luminal epithelium:	n/a
8	chr14:71275917-71275967	U87	brain:	n/a
9	chr14:71275530-71275580	HAEpiC	amniotic membrane:	n/a
10	chr14:71277095-71277145	AG09319	gingival:	n/a
11	chr14:71275920-71275970	SK-N-SH	brain:	n/a
12	chr14:71275631-71275681	NT2-D1	testis:	n/a
13	chr14:71275917-71275967	Jurkat	blood:	n/a
14	chr14:71277095-71277145	GM06990	blood:	n/a
15	chr14:71276874-71276924	PANC-1	pancreas:	n/a
16	chr14:71277095-71277145	GM19239	blood:	n/a
17	chr14:71276396-71276446	NHBE	bronchial:	n/a
18	chr14:71275917-71275967	HMEC	breast:	n/a
19	chr14:71277192-71277242	MCF-7	breast:	n/a
20	chr14:71275936-71275986	T-47D	breast:	n/a
21	chr14:71275920-71275970	NB4	blood:	n/a
22	chr14:71277095-71277145	SK-N-MC	brain:	n/a
23	chr14:71277095-71277145	CMK	blood:	n/a
24	chr14:71277192-71277242	AoSMC	blood vessel:	n/a
25	chr14:71275936-71275986	SAEC	small airway:	n/a
26	chr14:71277141-71277191	HCF	heart:	n/a
27	chr14:71275936-71275986	Hepatocyte	liver:	n/a
28	chr14:71275530-71275580	HCM	heart:	n/a
29	chr14:71275917-71275967	BJ	skin:	n/a
30	chr14:71276570-71276620	A549	lung:	n/a
31	chr14:71275917-71275967	Hepatocyte	liver:	n/a
32	chr14:71276570-71276620	HepG2	liver:	n/a
33	chr14:71275920-71275970	HIPEpiC	eye:	n/a
34	chr14:71275631-71275681	Caco-2	colon:	n/a
35	chr14:71276874-71276924	HRE	kidney:	n/a
36	chr14:71276874-71276924	GM06990	blood:	n/a
37	chr14:71276570-71276620	ProgFib	skin:	n/a
38	chr14:71275920-71275970	Caco-2	colon:	n/a
39	chr14:71277095-71277145	H1-hESC	embryonic stem cell:	embryo
40	chr14:71276874-71276924	Hela-S3	cervix:	n/a
41	chr14:71275942-71275992	Hela-S3	cervix:	n/a
42	chr14:71276570-71276620	U87	brain:	n/a
43	chr14:71275530-71275580	HUVEC	blood vessel:	n/a
44	chr14:71277095-71277145	Hepatocyte	liver:	n/a
45	chr14:71277141-71277191	HIPEpiC	eye:	n/a
46	chr14:71276570-71276620	AG10803	skin:	n/a
47	chr14:71276874-71276924	AG10803	skin:	n/a
48	chr14:71275942-71275992	H1-hESC	embryonic stem cell:	embryo
49	chr14:71275911-71275961	K562	blood:	n/a
50	chr14:71276570-71276620	NT2-D1	testis:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
2	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
3	chr14:71273334..71275325-chr14:71487514..71489742,2	MCF-7	breast:
4	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
5	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
6	chr14:71102508..71105172-chr14:71277207..71278775,2	MCF-7	breast:
7	chr14:71076190..71078982-chr14:71275139..71277878,2	MCF-7	breast:
8	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
9	chr14:71108262..71108946-chr14:71275849..71276515,2	MCF-7	breast:
10	chr12:53399239..53400858-chr14:71275577..71277135,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCNX-2	chr14:71276922-71277008	ENSG00000259153.1
2	lnc-PCNX-2	chr14:71277047-71277382	ENSG00000259153.1
3	lnc-PCNX-2	chr14:71276648-71277391	NONHSAT037592
4	lnc-PCNX-2	chr14:71276612-71277382	NONHSAT037591

No data

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

Extended variants
information (count: 104 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	rs112926442	chr14:71275914-71275915	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
37	rs575341230	chr14:71275981-71275982	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
38	rs536557176	chr14:71275985-71275986	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
39	rs3742847	chr14:71275986-71275987	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)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541403900	chr14:71276078-71276079	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs36279	chr14:71276145-71276146	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs36278	chr14:71276174-71276175	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs740036	chr14:71276206-71276207	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs740035	chr14:71276262-71276263	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs578165434	chr14:71276273-71276274	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs549256827	chr14:71276275-71276276	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs12882926	chr14:71276277-71276278	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs545517736	chr14:71276286-71276287	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs12882937	chr14:71276292-71276293	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs12882947	chr14:71276305-71276306	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region 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	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:71274200-71279400	Active TSS	HMEC	breast
4	chr14:71274400-71275200	Flanking Active TSS	GM12878-XiMat	blood
5	chr14:71274400-71276800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr14:71274400-71277600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:71274400-71277800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:71274400-71277800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:71274400-71278200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr14:71274600-71275200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr14:71274600-71275200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:71274600-71275200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:71274600-71275200	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr14:71274600-71275200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr14:71274600-71275200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr14:71274600-71275200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr14:71274600-71275200	Flanking Active TSS	Pancreas	Pancrea
18	chr14:71274600-71275200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr14:71274600-71275200	Flanking Bivalent TSS/Enh	Dnd41	blood
20	chr14:71274600-71275400	Enhancers	Spleen	Spleen
21	chr14:71274600-71275600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr14:71274600-71275600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:71274600-71275600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:71274600-71275800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr14:71274600-71276000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:71274600-71277200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr14:71274600-71277200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:71274600-71277200	Active TSS	Psoas Muscle	Psoas
29	chr14:71274600-71277600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:71274600-71277600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:71274600-71277800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:71274600-71277800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:71274600-71279400	Active TSS	Esophagus	oesophagus
34	chr14:71274800-71275200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:71274800-71275200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:71274800-71275200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr14:71274800-71275200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr14:71274800-71275200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr14:71274800-71275200	Flanking Active TSS	Fetal Brain Male	brain
40	chr14:71274800-71275200	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr14:71274800-71275200	Flanking Active TSS	Placenta	Placenta
42	chr14:71274800-71275200	Flanking Active TSS	Right Atrium	heart
43	chr14:71274800-71275200	Flanking Active TSS	Right Ventricle	heart
44	chr14:71274800-71275200	Bivalent/Poised TSS	Stomach Mucosa	stomach
45	chr14:71274800-71275200	Flanking Bivalent TSS/Enh	Thymus	Thymus
46	chr14:71274800-71275400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr14:71274800-71275400	Active TSS	Colonic Mucosa	Colon
48	chr14:71274800-71275400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr14:71274800-71275400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr14:71274800-71275400	Bivalent Enhancer	Fetal Muscle Leg	muscle

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