Variant report

Variant	esv1817657
Chromosome Location	chr14:104311251-104314960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:104314042-104314335	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr14:104313800-104314519	GM12878	blood:	n/a	chr14:104313854-104313870 chr14:104314094-104314110 chr14:104314340-104314356 chr14:104314345-104314361 chr14:104314348-104314364 chr14:104313950-104313966 chr14:104314095-104314111
3	BHLHE40	chr14:104313761-104314447	HepG2	liver:	n/a	chr14:104313776-104313792 chr14:104313854-104313870 chr14:104314094-104314110 chr14:104313768-104313784 chr14:104314340-104314356 chr14:104314345-104314361 chr14:104313782-104313798 chr14:104314348-104314364 chr14:104313950-104313966 chr14:104314095-104314111
4	BHLHE40	chr14:104313258-104313291	K562	blood:	n/a	n/a
5	BHLHE40	chr14:104313831-104314221	K562	blood:	n/a	chr14:104313854-104313870 chr14:104314094-104314110 chr14:104313950-104313966 chr14:104314095-104314111
6	BRCA1	chr14:104314080-104314189	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr14:104313227-104314522	K562	blood:	n/a	chr14:104314109-104314118 chr14:104314016-104314025 chr14:104313952-104313961 chr14:104314028-104314037
8	CEBPD	chr14:104313720-104314322	HepG2	liver:	n/a	n/a
9	CHD1	chr14:104313196-104313377	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr14:104314015-104314309	HepG2	liver:	n/a	chr14:104314017-104314027
11	CHD2	chr14:104313378-104313380	GM12878	blood:	n/a	n/a
12	CHD2	chr14:104314070-104314275	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr14:104313144-104313337	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr14:104313729-104314361	GM12878	blood:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
15	CHD2	chr14:104313992-104314251	K562	blood:	n/a	chr14:104314017-104314027
16	CHD2	chr14:104313625-104314313	Hela-S3	cervix:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
17	CREB1	chr14:104313696-104314468	A549	lung:	n/a	n/a
18	CREB1	chr14:104313819-104314302	GM12878	blood:	n/a	n/a
19	CREB1	chr14:104313665-104314682	HepG2	liver:	n/a	n/a
20	CREB1	chr14:104313825-104314076	A549	lung:	n/a	n/a
21	CTBP2	chr14:104314098-104315008	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr14:104314200-104314350	NHEK	skin:	n/a	n/a
23	E2F4	chr14:104313884-104314284	MCF10A-Er-Src	breast:	n/a	chr14:104314101-104314111 chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313997-104314006 chr14:104313947-104313957 chr14:104313952-104313961 chr14:104314103-104314112
24	E2F6	chr14:104314292-104314790	A549	lung:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
25	E2F6	chr14:104314250-104314665	K562	blood:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
26	E2F6	chr14:104314351-104314865	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
27	E2F6	chr14:104313811-104314045	K562	blood:	n/a	chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313859-104313869 chr14:104313997-104314006 chr14:104313856-104313866 chr14:104313947-104313957 chr14:104313952-104313961
28	E2F6	chr14:104314355-104314810	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
29	E2F6	chr14:104313352-104314708	K562	blood:	n/a	chr14:104314101-104314111 chr14:104314517-104314526 chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313859-104313869 chr14:104313997-104314006 chr14:104313613-104313625 chr14:104313856-104313866 chr14:104313947-104313957 chr14:104313952-104313961 chr14:104314103-104314112 chr14:104314562-104314573
30	E2F6	chr14:104313602-104314190	K562	blood:	n/a	chr14:104314101-104314111 chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313859-104313869 chr14:104313997-104314006 chr14:104313613-104313625 chr14:104313856-104313866 chr14:104313947-104313957 chr14:104313952-104313961 chr14:104314103-104314112
31	EBF1	chr14:104314425-104314456	GM12878	blood:	n/a	n/a
32	EBF1	chr14:104314299-104314724	GM12878	blood:	n/a	chr14:104314643-104314652
33	EBF1	chr14:104314006-104314228	GM12878	blood:	n/a	n/a
34	EBF1	chr14:104314491-104314674	GM12878	blood:	n/a	chr14:104314643-104314652
35	EGR1	chr14:104313709-104314365	HCT-116	colon:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
36	EGR1	chr14:104313819-104314243	GM12878	blood:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
37	EGR1	chr14:104313866-104314228	GM12878	blood:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
38	EGR1	chr14:104313824-104314821	MCF-7	breast:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314580-104314590 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314579-104314589 chr14:104314010-104314025 chr14:104314711-104314721 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104314517-104314527 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023 chr14:104314711-104314724
39	EGR1	chr14:104313764-104314350	HCT-116	colon:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
40	EGR1	chr14:104313759-104314334	ECC-1	luminal epithelium:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
41	EGR1	chr14:104313743-104314212	K562	blood:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
42	EGR1	chr14:104313764-104314209	K562	blood:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
43	EGR1	chr14:104313331-104313518	GM12878	blood:	n/a	chr14:104313455-104313469
44	EGR1	chr14:104313825-104314284	H1-hESC	embryonic stem cell:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
45	EGR1	chr14:104313725-104314298	ECC-1	luminal epithelium:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
46	ELF1	chr14:104313884-104314183	K562	blood:	n/a	chr14:104314101-104314113 chr14:104314100-104314109
47	ELF1	chr14:104313840-104314089	K562	blood:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104313857-104313869
48	ELF1	chr14:104313586-104314372	GM12878	blood:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
49	ELF1	chr14:104313088-104314759	GM12878	blood:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
50	ELF1	chr14:104313460-104315153	MCF-7	breast:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104314583-104314633	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:104313278-104313328	Hepatocyte	liver:	n/a
3	chr14:104313012-104313062	HCF	heart:	n/a
4	chr14:104313012-104313062	HIPEpiC	eye:	n/a
5	chr14:104314583-104314633	HPAEpiC	pulmonary alveolar:	n/a
6	chr14:104313278-104313328	Hepatocyte	liver:	n/a
7	chr14:104313012-104313062	HCF	heart:	n/a
8	chr14:104313012-104313062	HIPEpiC	eye:	n/a
9	chr14:104314583-104314633	AG09319	gingival:	n/a
10	chr14:104314434-104314484	ovcar-3	ovarian:	n/a
11	chr14:104314583-104314633	ECC-1	luminal epithelium:	n/a
12	chr14:104313870-104313920	GM12891	blood:	n/a
13	chr14:104314518-104314568	ProgFib	skin:	n/a
14	chr14:104314438-104314488	Caco-2	colon:	n/a
15	chr14:104312558-104312608	HNPCEpiC	eye:	n/a
16	chr14:104314583-104314633	SK-N-MC	brain:	n/a
17	chr14:104313233-104313283	HNPCEpiC	eye:	n/a
18	chr14:104313012-104313062	PrEC	prostate:	n/a
19	chr14:104314518-104314568	Hepatocyte	liver:	n/a
20	chr14:104312558-104312608	HRCEpiC	kidney:	n/a
21	chr14:104313278-104313328	HNPCEpiC	eye:	n/a
22	chr14:104313233-104313283	HepG2	liver:	n/a
23	chr14:104314557-104314607	Hepatocyte	liver:	n/a
24	chr14:104314518-104314568	MCF10A-Er-Src	breast:	n/a
25	chr14:104314734-104314784	HPAEpiC	pulmonary alveolar:	n/a
26	chr14:104312558-104312608	ProgFib	skin:	n/a
27	chr14:104314557-104314607	HUVEC	blood vessel:	n/a
28	chr14:104314518-104314568	AG04450	lung:	fetal
29	chr14:104314583-104314633	SKMC	muscle:	n/a
30	chr14:104314434-104314484	HMEC	breast:	n/a
31	chr14:104313012-104313062	NT2-D1	testis:	n/a
32	chr14:104314583-104314633	Hela-S3	cervix:	n/a
33	chr14:104314518-104314568	H1-hESC	embryonic stem cell:	embryo
34	chr14:104313278-104313328	GM19239	blood:	n/a
35	chr14:104314734-104314784	BJ	skin:	n/a
36	chr14:104314434-104314484	NH-A	brain:	n/a
37	chr14:104313278-104313328	T-47D	breast:	n/a
38	chr14:104314557-104314607	HAEpiC	amniotic membrane:	n/a
39	chr14:104314434-104314484	HRCEpiC	kidney:	n/a
40	chr14:104312558-104312608	MCF10A-Er-Src	breast:	n/a
41	chr14:104313233-104313283	PFSK-1	brain:	n/a
42	chr14:104314557-104314607	ProgFib	skin:	n/a
43	chr14:104313278-104313328	A549	lung:	n/a
44	chr14:104313870-104313920	HIPEpiC	eye:	n/a
45	chr14:104313870-104313920	HepG2	liver:	n/a
46	chr14:104314583-104314633	Jurkat	blood:	n/a
47	chr14:104313233-104313283	HL-60	blood:	n/a
48	chr14:104314434-104314484	SK-N-SH	brain:	n/a
49	chr14:104313012-104313062	SK-N-SH	brain:	n/a
50	chr14:104314583-104314633	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104309239..104311339-chr14:104321164..104323172,2	MCF-7	breast:
2	chr14:104312474..104314028-chr14:104433639..104437208,3	MCF-7	breast:
3	chr14:104313671..104314414-chr17:56736212..56736992,2	HCT-116	colon:
4	chr14:104201896..104204456-chr14:104312035..104314445,3	MCF-7	breast:
5	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
6	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
7	chr10:38145874..38146756-chr14:104312524..104313161,2	Hela-S3	cervix:
8	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
9	chr14:104313265..104314013-chr6:44214391..44215226,2	Hela-S3	cervix:
10	chr14:104190172..104192468-chr14:104312606..104314249,2	MCF-7	breast:
11	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2134A5.2.1-1	chr14:104314058-104314080	XLOC_010944

Variant related genes	Relation type
PPP1R13B	TF binding region
LINC00637	TF binding region
PPP1R13B	CpG island
LINC00637	CpG island
ENSG00000126215	chromatin interactions
ENSG00000253096	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000258534	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000198105	chromatin interactions
ENSG00000088808	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000156414	chromatin interactions
ENSG00000236514	chromatin interactions
JUP	miRNA target sites

Extended variants
information (count: 130 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10137566	chr14:104311251-104311252	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556333055	chr14:104311253-104311254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74708348	chr14:104311267-104311268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549263825	chr14:104311305-104311306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142617175	chr14:104311350-104311351	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs544846506	chr14:104311406-104311407	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs1187416	chr14:104311465-104311466	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530436207	chr14:104311476-104311477	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540219394	chr14:104311482-104311483	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs144783854	chr14:104311537-104311538	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs562172719	chr14:104311540-104311541	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535303046	chr14:104311550-104311551	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552245509	chr14:104311552-104311553	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2307733	chr14:104311574-104311575	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs67386875	chr14:104311575-104311576	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10668339	chr14:104311577-104311578	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs80185053	chr14:104311578-104311579	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs75102011	chr14:104311604-104311605	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531381872	chr14:104311681-104311682	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs371728301	chr14:104311695-104311696	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548387761	chr14:104311700-104311701	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184695637	chr14:104311710-104311711	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs35442861	chr14:104311734-104311735	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568230471	chr14:104311749-104311750	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs534103659	chr14:104311751-104311752	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs547421445	chr14:104311799-104311800	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571292997	chr14:104311871-104311872	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs570452662	chr14:104311981-104311982	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539473318	chr14:104311985-104311986	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs12896699	chr14:104311990-104311991	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs12896700	chr14:104311996-104311997	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs115074211	chr14:104312006-104312007	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs536642704	chr14:104312015-104312016	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs141739483	chr14:104312076-104312077	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576224970	chr14:104312135-104312136	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538018123	chr14:104312148-104312149	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs189470288	chr14:104312175-104312176	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs377684406	chr14:104312185-104312186	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540921111	chr14:104312222-104312223	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192179627	chr14:104312272-104312273	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576812922	chr14:104312296-104312297	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs184957255	chr14:104312304-104312305	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs117674709	chr14:104312307-104312308	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs28616007	chr14:104312342-104312343	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548039285	chr14:104312345-104312346	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs548581867	chr14:104312350-104312351	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs189465202	chr14:104312410-104312411	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs181191777	chr14:104312411-104312412	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs186243934	chr14:104312445-104312446	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs373512276	chr14:104312473-104312474	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	20824076	CNVD
Colorectal cancer	20824076	CNVD
Non-small cell lung cancer	20824076	CNVD
Ovarian cancer	20824076	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104292000-104312400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:104295200-104311600	Weak transcription	Liver	Liver
3	chr14:104295200-104312200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:104295200-104312400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:104295200-104312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:104295200-104312600	Weak transcription	Small Intestine	intestine
7	chr14:104299000-104312200	Weak transcription	Hela-S3	cervix
8	chr14:104303800-104312400	Weak transcription	Adipose Nuclei	Adipose
9	chr14:104304000-104311600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:104304000-104312200	Weak transcription	Right Ventricle	heart
11	chr14:104304000-104312400	Weak transcription	Lung	lung
12	chr14:104304000-104312800	Weak transcription	Esophagus	oesophagus
13	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
14	chr14:104305400-104312800	Weak transcription	Gastric	stomach
15	chr14:104306200-104312400	Weak transcription	Ovary	ovary
16	chr14:104306200-104312400	Weak transcription	Psoas Muscle	Psoas
17	chr14:104306400-104312200	Weak transcription	HMEC	breast
18	chr14:104306600-104312200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:104306600-104312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:104306800-104311600	Weak transcription	NHEK	skin
21	chr14:104306800-104311800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:104306800-104311800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:104306800-104312400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:104306800-104312400	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:104307200-104311600	Weak transcription	Fetal Heart	heart
26	chr14:104307200-104312400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:104307200-104312400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:104307800-104312400	Weak transcription	Stomach Mucosa	stomach
29	chr14:104308400-104312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:104308800-104312400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:104309000-104312800	Weak transcription	Placenta	Placenta
32	chr14:104309200-104311800	Weak transcription	Right Atrium	heart
33	chr14:104309200-104312400	Weak transcription	Colonic Mucosa	Colon
34	chr14:104309600-104312400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:104310400-104312200	Weak transcription	Fetal Intestine Small	intestine
36	chr14:104310600-104311800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:104310600-104312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:104310600-104312400	Enhancers	HepG2	liver
39	chr14:104311000-104311800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:104311000-104311800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:104311000-104312400	Weak transcription	Left Ventricle	heart
42	chr14:104311000-104312800	Weak transcription	Pancreas	Pancrea
43	chr14:104311600-104311800	Flanking Active TSS	Fetal Heart	heart
44	chr14:104311600-104311800	Enhancers	NHEK	skin
45	chr14:104311600-104312400	Enhancers	Liver	Liver
46	chr14:104311600-104312600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr14:104311600-104312600	Enhancers	Brain Cingulate Gyrus	brain
48	chr14:104311800-104312000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr14:104311800-104312200	Enhancers	Duodenum Mucosa	Duodenum
50	chr14:104311800-104312200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links