Variant report

Variant	esv3421651
Chromosome Location	chr14:69725724-69728572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:453)
CpG islands
(count:1103)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:453 , 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	BACH1	chr14:69727892-69728182	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:69726369-69727680	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr14:69727741-69728156	H1-hESC	embryonic stem cell:	n/a	chr14:69727882-69727891
4	CTBP2	chr14:69726042-69726768	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr14:69727025-69729465	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:69726520-69726670	HMEC	breast:	n/a	n/a
7	CTCF	chr14:69726540-69726690	SAEC	small airway:	n/a	n/a
8	CTCF	chr14:69727920-69728070	HVMF	connective:	n/a	chr14:69728001-69728019
9	CTCF	chr14:69727920-69728070	GM12870	blood:	n/a	chr14:69728001-69728019
10	CTCF	chr14:69726460-69726610	GM12875	blood:	n/a	n/a
11	CTCF	chr14:69727980-69728130	HEEpiC	esophagus:	n/a	chr14:69728001-69728019
12	CTCF	chr14:69726468-69726671	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:69727907-69728096	GM20000	blood:	n/a	chr14:69728001-69728019
14	CTCF	chr14:69727520-69727670	GM12865	blood:	n/a	n/a
15	CTCF	chr14:69728360-69728510	Caco-2	colon:	n/a	n/a
16	CTCF	chr14:69727940-69728090	GM12874	blood:	n/a	chr14:69728001-69728019
17	CTCF	chr14:69726508-69726621	Lung_OC	lung:	n/a	n/a
18	CTCF	chr14:69726520-69726670	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr14:69726500-69726650	GM12865	blood:	n/a	n/a
20	CTCF	chr14:69726520-69726670	HMF	breast:	n/a	n/a
21	CTCF	chr14:69727680-69727830	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr14:69727940-69728090	NHLF	lung:	n/a	chr14:69728001-69728019
23	CTCF	chr14:69727938-69728111	HUVEC	blood vessel:	n/a	chr14:69728001-69728019
24	CTCF	chr14:69726280-69726880	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:69726494-69726634	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:69726260-69726410	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr14:69726520-69726670	HRE	kidney:	n/a	n/a
28	CTCF	chr14:69726500-69726650	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr14:69726500-69726650	K562	blood:	n/a	n/a
30	CTCF	chr14:69727980-69728130	HEK293	kidney:	n/a	chr14:69728001-69728019
31	CTCF	chr14:69726160-69726310	GM12864	blood:	n/a	n/a
32	CTCF	chr14:69726440-69726590	GM12878	blood:	n/a	n/a
33	CTCF	chr14:69727900-69728050	HFF-Myc	foreskin:	n/a	chr14:69728001-69728019
34	CTCF	chr14:69727880-69728030	GM12870	blood:	n/a	chr14:69728001-69728019
35	CTCF	chr14:69726540-69726690	GM12871	blood:	n/a	n/a
36	CTCF	chr14:69726500-69726650	AG10803	skin:	n/a	n/a
37	CTCF	chr14:69727960-69728110	HCPEpiC	choroid plexus:	n/a	chr14:69728001-69728019
38	CTCF	chr14:69727640-69727790	GM12874	blood:	n/a	n/a
39	CTCF	chr14:69726460-69726610	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr14:69726860-69727010	WERI-Rb-1	eye:	n/a	chr14:69726982-69726991
41	CTCF	chr14:69727960-69728110	HepG2	liver:	n/a	chr14:69728001-69728019
42	CTCF	chr14:69727609-69728254	H1-hESC	embryonic stem cell:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
43	CTCF	chr14:69726500-69726650	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr14:69726518-69726647	HepG2	liver:	n/a	n/a
45	CTCF	chr14:69727908-69728141	LNCaP	prostate:	n/a	chr14:69728001-69728019
46	CTCF	chr14:69726395-69726660	T-47D	breast:	n/a	n/a
47	CTCF	chr14:69726540-69726690	AG04450	lung:	n/a	n/a
48	CTCF	chr14:69727940-69728090	GM12867	blood:	n/a	chr14:69728001-69728019
49	CTCF	chr14:69726200-69726350	HAc	cerebellar:	n/a	n/a
50	CTCF	chr14:69726480-69726630	AoAF	blood vessel:	n/a	n/a

(count:1103 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69726620-69726670	HRCEpiC	kidney:	n/a
2	chr14:69726938-69726988	T-47D	breast:	n/a
3	chr14:69727352-69727402	HEK293	kidney:	embryo
4	chr14:69726397-69726447	H1-hESC	embryonic stem cell:	embryo
5	chr14:69727352-69727402	AG10803	skin:	n/a
6	chr14:69726620-69726670	HRCEpiC	kidney:	n/a
7	chr14:69726938-69726988	T-47D	breast:	n/a
8	chr14:69727352-69727402	HEK293	kidney:	embryo
9	chr14:69726397-69726447	H1-hESC	embryonic stem cell:	embryo
10	chr14:69727352-69727402	AG10803	skin:	n/a
11	chr14:69728089-69728139	Jurkat	blood:	n/a
12	chr14:69726254-69726304	GM06990	blood:	n/a
13	chr14:69726251-69726301	NT2-D1	testis:	n/a
14	chr14:69726251-69726301	PFSK-1	brain:	n/a
15	chr14:69727092-69727142	T-47D	breast:	n/a
16	chr14:69727352-69727402	Jurkat	blood:	n/a
17	chr14:69726938-69726988	ECC-1	luminal epithelium:	n/a
18	chr14:69726221-69726271	HEK293	kidney:	embryo
19	chr14:69726536-69726586	PANC-1	pancreas:	n/a
20	chr14:69726536-69726586	HEEpiC	esophagus:	n/a
21	chr14:69725842-69725892	A549	lung:	n/a
22	chr14:69727753-69727803	H1-hESC	embryonic stem cell:	embryo
23	chr14:69728089-69728139	HUVEC	blood vessel:	n/a
24	chr14:69728089-69728139	CMK	blood:	n/a
25	chr14:69726536-69726586	NT2-D1	testis:	n/a
26	chr14:69727092-69727142	ECC-1	luminal epithelium:	n/a
27	chr14:69726254-69726304	BE2_C	brain:	n/a
28	chr14:69726742-69726792	HRE	kidney:	n/a
29	chr14:69727352-69727402	BE2_C	brain:	n/a
30	chr14:69726938-69726988	GM12878	blood:	n/a
31	chr14:69726319-69726369	ECC-1	luminal epithelium:	n/a
32	chr14:69725831-69725881	Hepatocyte	liver:	n/a
33	chr14:69726742-69726792	NHDF-neo	bronchial:	n/a
34	chr14:69726397-69726447	MCF10A-Er-Src	breast:	n/a
35	chr14:69726319-69726369	HepG2	liver:	n/a
36	chr14:69725842-69725892	SK-N-SH	brain:	n/a
37	chr14:69725842-69725892	ECC-1	luminal epithelium:	n/a
38	chr14:69726620-69726670	BE2_C	brain:	n/a
39	chr14:69726221-69726271	Hela-S3	cervix:	n/a
40	chr14:69727860-69727910	GM06990	blood:	n/a
41	chr14:69726536-69726586	SK-N-SH_RA	brain:	n/a
42	chr14:69725831-69725881	IMR90	lung:	fetal
43	chr14:69726319-69726369	SK-N-SH	brain:	n/a
44	chr14:69726620-69726670	HRE	kidney:	n/a
45	chr14:69726319-69726369	GM12891	blood:	n/a
46	chr14:69725842-69725892	HMEC	breast:	n/a
47	chr14:69728089-69728139	Caco-2	colon:	n/a
48	chr14:69726254-69726304	ProgFib	skin:	n/a
49	chr14:69726254-69726304	U87	brain:	n/a
50	chr14:69727092-69727142	AG10803	skin:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69727618..69729790-chr14:69814011..69815808,2	MCF-7	breast:
2	chr14:69725007..69726922-chr14:69727480..69730109,2	MCF-7	breast:
3	chr14:69618346..69620839-chr14:69725644..69728530,2	K562	blood:
4	chr14:69727609..69728342-chr14:69754055..69754863,2	MCF-7	breast:
5	chr14:69727962..69728492-chr7:144148116..144148944,2	MCF-7	breast:
6	chr14:69716336..69718485-chr14:69728021..69730750,2	MCF-7	breast:
7	chr14:69727858..69730581-chr14:69738722..69740609,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF5-2	chr14:69725719-69725784	XLOC_011060
2	lnc-DCAF5-2	chr14:69727007-69727284	ENSG00000258520
3	lnc-DCAF5-2	chr14:69725718-69725784	NONHSAT037517

No data

Variant related genes	Relation type
ENSG00000258520	TF binding region
GALNT16	TF binding region
ENSG00000258520	CpG island
GALNT16	CpG island
ENSG00000139990	chromatin interactions
ENSG00000221507	chromatin interactions
ENSG00000100626	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559759350	chr14:69725791-69725792	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533370379	chr14:69725842-69725843	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs137954866	chr14:69725843-69725844	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563851223	chr14:69725847-69725848	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1890938	chr14:69725875-69725876	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530901443	chr14:69725977-69725978	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549599769	chr14:69725982-69725983	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567892498	chr14:69725997-69725998	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529020958	chr14:69726147-69726148	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12589585	chr14:69726166-69726167	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374573850	chr14:69726182-69726183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539467744	chr14:69726273-69726274	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs549296045	chr14:69726288-69726289	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201880657	chr14:69726354-69726355	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142050731	chr14:69726428-69726429	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs537124372	chr14:69726503-69726504	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560316052	chr14:69726516-69726517	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555476026	chr14:69726567-69726568	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574297227	chr14:69726584-69726585	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535183226	chr14:69726639-69726640	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111290419	chr14:69726655-69726656	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377339579	chr14:69726658-69726659	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553631092	chr14:69726673-69726674	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111285644	chr14:69726688-69726689	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545423655	chr14:69726761-69726762	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs370614822	chr14:69726778-69726779	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs184884986	chr14:69726785-69726786	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374048021	chr14:69726799-69726800	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542729325	chr14:69726825-69726826	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561007223	chr14:69726830-69726831	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529058627	chr14:69726831-69726832	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs547272270	chr14:69726854-69726855	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559642833	chr14:69726858-69726859	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533064172	chr14:69726867-69726868	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551387038	chr14:69726868-69726869	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569692990	chr14:69726898-69726899	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs537007485	chr14:69726944-69726945	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141241841	chr14:69726968-69726969	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200155729	chr14:69726996-69726997	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373183033	chr14:69726997-69726998	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376278490	chr14:69727038-69727039	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs370678346	chr14:69727039-69727040	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs535265512	chr14:69727065-69727066	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs150774678	chr14:69727121-69727122	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs147598454	chr14:69727148-69727149	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs371008744	chr14:69727160-69727161	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs140785600	chr14:69727168-69727169	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs375649872	chr14:69727179-69727180	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs376113521	chr14:69727192-69727193	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs114789616	chr14:69727194-69727195	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	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	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	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	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69694000-69726000	Weak transcription	Right Atrium	heart
2	chr14:69704800-69725800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69708400-69725800	Weak transcription	Pancreas	Pancrea
4	chr14:69709400-69725800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:69709400-69726400	Weak transcription	Gastric	stomach
6	chr14:69714800-69726200	Weak transcription	Aorta	Aorta
7	chr14:69717400-69725800	Weak transcription	Left Ventricle	heart
8	chr14:69723000-69725800	Weak transcription	Right Ventricle	heart
9	chr14:69723800-69725800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:69725000-69725800	Enhancers	Fetal Brain Female	brain
11	chr14:69725400-69725800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:69725400-69726000	Enhancers	Brain Angular Gyrus	brain
13	chr14:69725400-69726200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:69725400-69726400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:69725400-69728400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr14:69725600-69725800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:69725600-69725800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr14:69725600-69725800	Enhancers	Fetal Heart	heart
19	chr14:69725600-69726000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:69725600-69726000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:69725600-69726000	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr14:69725600-69726000	Bivalent Enhancer	Fetal Lung	lung
23	chr14:69725600-69726000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr14:69725600-69726200	Enhancers	Fetal Brain Male	brain
25	chr14:69725600-69726400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr14:69725600-69728400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr14:69725800-69726000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
28	chr14:69725800-69726000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr14:69725800-69726000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:69725800-69726000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:69725800-69726000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:69725800-69726000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr14:69725800-69726000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr14:69725800-69726000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr14:69725800-69726000	Flanking Active TSS	Fetal Brain Female	brain
36	chr14:69725800-69726000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr14:69725800-69726000	Bivalent Enhancer	Fetal Stomach	stomach
38	chr14:69725800-69726000	Enhancers	Right Ventricle	heart
39	chr14:69725800-69726000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr14:69725800-69726000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr14:69725800-69726000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr14:69725800-69726000	Enhancers	A549	lung
43	chr14:69725800-69726000	Bivalent Enhancer	HepG2	liver
44	chr14:69725800-69726000	Bivalent Enhancer	HSMMtube	muscle
45	chr14:69725800-69726200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:69725800-69726200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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