Variant report

Variant	esv3359357
Chromosome Location	chr14:105553957-105556755
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	ATF3	chr14:105554018-105555597	A549	lung:	n/a	chr14:105554697-105554706
2	ATF3	chr14:105556723-105557180	A549	lung:	n/a	n/a
3	ATF3	chr14:105554133-105554962	A549	lung:	n/a	chr14:105554697-105554706
4	BACH1	chr14:105554770-105554900	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr14:105554348-105554357	K562	blood:	n/a	n/a
6	BCL3	chr14:105547380-105555731	A549	lung:	n/a	chr14:105553921-105553934 chr14:105553728-105553736 chr14:105554009-105554022 chr14:105553926-105553935 chr14:105553794-105553803 chr14:105553928-105553941 chr14:105554698-105554707 chr14:105553998-105554011 chr14:105555553-105555562
7	BCL3	chr14:105556596-105557520	A549	lung:	n/a	n/a
8	BCL3	chr14:105552754-105555654	A549	lung:	n/a	chr14:105553921-105553934 chr14:105553728-105553736 chr14:105554009-105554022 chr14:105553926-105553935 chr14:105553794-105553803 chr14:105553928-105553941 chr14:105554698-105554707 chr14:105553998-105554011 chr14:105555553-105555562
9	BCL3	chr14:105556352-105559650	A549	lung:	n/a	chr14:105559601-105559614 chr14:105558706-105558719 chr14:105559120-105559133
10	BHLHE40	chr14:105554134-105554633	GM12878	blood:	n/a	n/a
11	BHLHE40	chr14:105554214-105554567	K562	blood:	n/a	n/a
12	BHLHE40	chr14:105554272-105554486	HepG2	liver:	n/a	n/a
13	BHLHE40	chr14:105554194-105554845	A549	lung:	n/a	chr14:105554754-105554770
14	BRCA1	chr14:105554248-105554954	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr14:105554710-105554895	K562	blood:	n/a	chr14:105554831-105554840
16	CCNT2	chr14:105553823-105554047	K562	blood:	n/a	n/a
17	CEBPB	chr14:105554011-105555308	A549	lung:	n/a	chr14:105554666-105554677
18	CEBPB	chr14:105554052-105555523	Hela-S3	cervix:	n/a	chr14:105554666-105554677
19	CEBPB	chr14:105554059-105554425	IMR90	lung:	n/a	n/a
20	CEBPB	chr14:105554705-105555551	A549	lung:	n/a	n/a
21	CEBPB	chr14:105554576-105554677	H1-hESC	embryonic stem cell:	n/a	chr14:105554666-105554677
22	CEBPB	chr14:105554063-105554430	A549	lung:	n/a	n/a
23	CEBPB	chr14:105554046-105554446	A549	lung:	n/a	n/a
24	CHD1	chr14:105552842-105554974	IMR90	lung:	n/a	chr14:105554093-105554103 chr14:105554015-105554025 chr14:105554637-105554647 chr14:105553762-105553772 chr14:105554098-105554108
25	CHD1	chr14:105553986-105554002	GM12878	blood:	n/a	n/a
26	CHD2	chr14:105554546-105554578	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr14:105553012-105554186	GM12878	blood:	n/a	chr14:105554093-105554103 chr14:105554015-105554025 chr14:105553762-105553772 chr14:105554098-105554108
28	CHD2	chr14:105554261-105554986	Hela-S3	cervix:	n/a	chr14:105554637-105554647
29	CREB1	chr14:105553065-105555011	A549	lung:	n/a	n/a
30	CTBP2	chr14:105553150-105554903	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:105556400-105556550	HCT-116	colon:	n/a	n/a
32	CTCF	chr14:105554093-105554095	GM13976	blood:	n/a	n/a
33	CTCF	chr14:105555314-105555391	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr14:105555360-105555510	GM12873	blood:	n/a	n/a
35	CTCF	chr14:105556240-105556390	AG09319	gingival:	n/a	n/a
36	CTCF	chr14:105555440-105555590	HepG2	liver:	n/a	n/a
37	CTCF	chr14:105556580-105556730	HAc	cerebellar:	n/a	n/a
38	CTCF	chr14:105554680-105554830	HCPEpiC	choroid plexus:	n/a	chr14:105554789-105554802
39	CTCF	chr14:105556540-105556690	GM12870	blood:	n/a	chr14:105556547-105556560
40	CTCF	chr14:105556560-105556710	AG04449	skin:	n/a	n/a
41	CTCF	chr14:105556440-105556590	WI-38	lung:	n/a	chr14:105556547-105556560
42	CTCF	chr14:105556240-105556390	AG04449	skin:	n/a	n/a
43	CTCF	chr14:105556411-105558268	HCT-116	colon:	n/a	chr14:105558089-105558099 chr14:105556805-105556818 chr14:105558088-105558101 chr14:105556998-105557011 chr14:105556547-105556560 chr14:105556857-105556866 chr14:105556995-105557013 chr14:105556997-105557018 chr14:105557000-105557010 chr14:105556996-105557012 chr14:105557447-105557455 chr14:105557501-105557514 chr14:105556998-105557011 chr14:105556998-105557007 chr14:105557444-105557462
44	CTCF	chr14:105556630-105556710	Gliobla	brain:	n/a	n/a
45	CTCF	chr14:105556625-105556732	NHEK	skin:	n/a	n/a
46	CTCF	chr14:105555287-105555436	NHEK	skin:	n/a	n/a
47	CTCF	chr14:105556480-105556630	NB4	blood:	n/a	chr14:105556547-105556560
48	CTCF	chr14:105556100-105556250	GM12875	blood:	n/a	n/a
49	CTCF	chr14:105555294-105555441	GM19239	blood:	n/a	n/a
50	CTCF	chr14:105556544-105557181	GM12891	blood:	n/a	chr14:105556805-105556818 chr14:105556998-105557011 chr14:105556547-105556560 chr14:105556857-105556866 chr14:105556995-105557013 chr14:105556997-105557018 chr14:105557000-105557010 chr14:105556996-105557012 chr14:105556998-105557011 chr14:105556998-105557007

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105554214-105554264	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:105554214-105554264	HPAEpiC	pulmonary alveolar:	n/a
3	chr14:105554214-105554264	HAEpiC	amniotic membrane:	n/a
4	chr14:105555223-105555273	AG10803	skin:	n/a
5	chr14:105555223-105555273	HepG2	liver:	n/a
6	chr14:105555223-105555273	GM12878	blood:	n/a
7	chr14:105554214-105554264	NHDF-neo	bronchial:	n/a
8	chr14:105555223-105555273	AoSMC	blood vessel:	n/a
9	chr14:105555223-105555273	AG09319	gingival:	n/a
10	chr14:105555223-105555273	Hepatocyte	liver:	n/a
11	chr14:105555223-105555273	HL-60	blood:	n/a
12	chr14:105554214-105554264	RPTEC	kidney:	n/a
13	chr14:105554214-105554264	HCM	heart:	n/a
14	chr14:105554352-105554402	ProgFib	skin:	n/a
15	chr14:105554214-105554264	HEK293	kidney:	embryo
16	chr14:105554352-105554402	SK-N-SH	brain:	n/a
17	chr14:105554214-105554264	CMK	blood:	n/a
18	chr14:105554352-105554402	SK-N-SH_RA	brain:	n/a
19	chr14:105554352-105554402	NHBE	bronchial:	n/a
20	chr14:105554352-105554402	MCF10A-Er-Src	breast:	n/a
21	chr14:105554352-105554402	CMK	blood:	n/a
22	chr14:105554214-105554264	ProgFib	skin:	n/a
23	chr14:105554214-105554264	BE2_C	brain:	n/a
24	chr14:105554214-105554264	AG10803	skin:	n/a
25	chr14:105554214-105554264	AG04449	skin:	fetal
26	chr14:105555223-105555273	ovcar-3	ovarian:	n/a
27	chr14:105555223-105555273	SAEC	small airway:	n/a
28	chr14:105555223-105555273	BE2_C	brain:	n/a
29	chr14:105554214-105554264	GM19239	blood:	n/a
30	chr14:105555223-105555273	T-47D	breast:	n/a
31	chr14:105554214-105554264	NB4	blood:	n/a
32	chr14:105554214-105554264	SAEC	small airway:	n/a
33	chr14:105554214-105554264	PrEC	prostate:	n/a
34	chr14:105555223-105555273	U87	brain:	n/a
35	chr14:105554352-105554402	GM06990	blood:	n/a
36	chr14:105555223-105555273	HCPEpiC	choroid plexus:	n/a
37	chr14:105554214-105554264	GM06990	blood:	n/a
38	chr14:105555223-105555273	HMEC	breast:	n/a
39	chr14:105554352-105554402	Hela-S3	cervix:	n/a
40	chr14:105555223-105555273	H1-hESC	embryonic stem cell:	embryo
41	chr14:105554352-105554402	PANC-1	pancreas:	n/a
42	chr14:105554214-105554264	K562	blood:	n/a
43	chr14:105554352-105554402	HRPEpiC	eye:	n/a
44	chr14:105554352-105554402	GM12878	blood:	n/a
45	chr14:105555223-105555273	PANC-1	pancreas:	n/a
46	chr14:105555223-105555273	CMK	blood:	n/a
47	chr14:105554214-105554264	NT2-D1	testis:	n/a
48	chr14:105554352-105554402	SK-N-MC	brain:	n/a
49	chr14:105554214-105554264	HRCEpiC	kidney:	n/a
50	chr14:105555223-105555273	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105541634..105546414-chr14:105550039..105556215,6	MCF-7	breast:
2	chr14:105437250..105440570-chr14:105553722..105556644,3	MCF-7	breast:
3	chr14:105441542..105446524-chr14:105551776..105555830,4	K562	blood:
4	chr14:105330424..105332507-chr14:105554490..105556010,2	MCF-7	breast:
5	chr14:105556528..105557420-chr14:105633531..105634669,3	MCF-7	breast:
6	chr14:105546872..105548479-chr14:105554881..105556792,2	K562	blood:
7	chr14:105552947..105555057-chr14:105555509..105557119,2	K562	blood:
8	chr14:105556568..105557626-chr14:105644344..105645020,4	MCF-7	breast:
9	chr14:105556545..105557474-chr14:105818256..105819211,4	K562	blood:
10	chr14:105555507..105557532-chr14:105644874..105649259,4	MCF-7	breast:
11	chr14:105552947..105555057-chr14:105555509..105557119,2	K562	blood:
12	chr14:105551472..105556224-chr14:105557135..105561197,4	K562	blood:
13	chr14:105553187..105555561-chr14:105589136..105591325,2	MCF-7	breast:
14	chr14:105556465..105557553-chr14:105654009..105655084,4	MCF-7	breast:
15	chr14:105550667..105552367-chr14:105554467..105556280,2	K562	blood:
16	chr14:105487065..105489354-chr14:105552819..105555083,2	K562	blood:
17	chr14:105556047..105558699-chr14:105620485..105622825,2	K562	blood:
18	chr14:105539179..105546592-chr14:105547833..105554421,6	K562	blood:
19	chr14:105444336..105445214-chr14:105553267..105554067,2	K562	blood:
20	chr14:105556509..105557265-chr14:105631240..105632200,2	MCF-7	breast:
21	chr14:105555328..105560254-chr14:105631379..105635555,5	MCF-7	breast:
22	chr14:105556660..105559437-chr14:105588253..105590015,2	MCF-7	breast:
23	chr14:105553496..105555474-chr14:105559584..105561401,3	K562	blood:
24	chr14:105538481..105541276-chr14:105553556..105555941,2	K562	blood:
25	chr14:105439903..105442825-chr14:105553149..105554969,2	MCF-7	breast:
26	chr14:105444537..105448423-chr14:105550882..105555382,4	MCF-7	breast:
27	chr14:105552235..105554666-chr14:105628025..105629965,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257556	TF binding region
ENSG00000257556	CpG island
ENSG00000170779	chromatin interactions
ENSG00000257622	chromatin interactions
ENSG00000257556	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000184916	chromatin interactions
ENSG00000183828	chromatin interactions
ENSG00000185567	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587600430	chr14:105553972-105553973	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs587646430	chr14:105553988-105553989	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs587746100	chr14:105554010-105554011	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs587619393	chr14:105554062-105554063	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs587698986	chr14:105554085-105554086	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs113499822	chr14:105554108-105554109	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs587756090	chr14:105554214-105554215	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs587610477	chr14:105554244-105554245	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs587657814	chr14:105554250-105554251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs587743476	chr14:105554283-105554284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs181596040	chr14:105554324-105554325	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs587685897	chr14:105554340-105554341	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs372848546	chr14:105554376-105554377	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs587742921	chr14:105554415-105554416	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372920080	chr14:105554419-105554420	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs75369517	chr14:105554431-105554432	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs587695868	chr14:105554464-105554465	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs587753449	chr14:105554491-105554492	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs4983576	chr14:105554527-105554528	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs587676351	chr14:105554570-105554571	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs4983577	chr14:105554626-105554627	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs587639301	chr14:105554665-105554666	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs587744143	chr14:105554709-105554710	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs185759395	chr14:105554750-105554751	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs587674998	chr14:105554800-105554801	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs587731912	chr14:105554812-105554813	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs587603933	chr14:105554854-105554855	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs144333673	chr14:105554883-105554884	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs587726312	chr14:105554895-105554896	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs587607404	chr14:105554897-105554898	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs587663179	chr14:105554961-105554962	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs587740892	chr14:105554994-105554995	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs587616167	chr14:105555043-105555044	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs117327986	chr14:105555088-105555089	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs587727169	chr14:105555140-105555141	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs587627218	chr14:105555199-105555200	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587690580	chr14:105555211-105555212	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587606856	chr14:105555220-105555221	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs12147310	chr14:105555223-105555224	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs587666112	chr14:105555227-105555228	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375296724	chr14:105555243-105555244	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs4983578	chr14:105555261-105555262	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs587772719	chr14:105555279-105555280	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587674767	chr14:105555285-105555286	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs112525051	chr14:105555286-105555287	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs148756638	chr14:105555349-105555350	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs372863755	chr14:105555362-105555363	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs189439564	chr14:105555369-105555370	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs375804839	chr14:105555370-105555371	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs4983579	chr14:105555396-105555397	Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:107)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105551600-105559000	Enhancers	Placenta	Placenta
2	chr14:105552800-105554000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr14:105552800-105554000	Flanking Active TSS	HMEC	breast
4	chr14:105552800-105554000	Active TSS	NH-A	brain
5	chr14:105552800-105554000	Active TSS	NHLF	lung
6	chr14:105552800-105554200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:105552800-105554200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr14:105553000-105554000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
9	chr14:105553000-105554000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
10	chr14:105553000-105554000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr14:105553000-105554000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:105553000-105554200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:105553000-105554200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr14:105553000-105554200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:105553000-105554200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
16	chr14:105553000-105554200	Flanking Active TSS	Pancreas	Pancrea
17	chr14:105553000-105554200	Active TSS	K562	blood
18	chr14:105553000-105554400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
19	chr14:105553000-105554400	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr14:105553000-105554400	Active TSS	Right Atrium	heart
21	chr14:105553000-105554600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:105553000-105554600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:105553000-105554600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr14:105553000-105554600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr14:105553000-105554600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr14:105553000-105554800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr14:105553000-105555000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr14:105553000-105555000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr14:105553200-105554000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:105553200-105554000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:105553200-105554000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:105553200-105554000	Active TSS	Left Ventricle	heart
33	chr14:105553200-105554000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
34	chr14:105553200-105554200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:105553200-105554200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:105553200-105554200	Active TSS	Primary T cells from cord blood	blood
37	chr14:105553200-105554200	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr14:105553200-105554200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:105553200-105554200	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr14:105553200-105554200	Active TSS	Colon Smooth Muscle	Colon
41	chr14:105553200-105554200	Active TSS	Esophagus	oesophagus
42	chr14:105553200-105554200	Active TSS	A549	lung
43	chr14:105553200-105554400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr14:105553200-105554400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:105553200-105554400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:105553200-105554400	Active TSS	Psoas Muscle	Psoas
47	chr14:105553200-105554600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr14:105553200-105554600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:105553200-105554600	Active TSS	Rectal Smooth Muscle	rectum
50	chr14:105553200-105554800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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