Variant report

Variant	nsv902428
Chromosome Location	chr14:105531945-105555396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1577)
CpG islands
(count:1039)
Chromatin interactive
region (count:57)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1577 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105553289-105553458	K562	blood:	n/a	n/a
2	ATF1	chr14:105531689-105532059	K562	blood:	n/a	n/a
3	ATF2	chr14:105535270-105535705	GM12878	blood:	n/a	n/a
4	ATF2	chr14:105533544-105534046	GM12878	blood:	n/a	n/a
5	ATF2	chr14:105533584-105533931	GM12878	blood:	n/a	n/a
6	ATF2	chr14:105535036-105535648	GM12878	blood:	n/a	n/a
7	ATF2	chr14:105532781-105533205	GM12878	blood:	n/a	n/a
8	ATF2	chr14:105553013-105553749	GM12878	blood:	n/a	n/a
9	ATF2	chr14:105531529-105532220	GM12878	blood:	n/a	n/a
10	ATF2	chr14:105531494-105532230	GM12878	blood:	n/a	n/a
11	ATF2	chr14:105532672-105533249	GM12878	blood:	n/a	n/a
12	ATF2	chr14:105536073-105537473	GM12878	blood:	n/a	n/a
13	ATF2	chr14:105536061-105537450	GM12878	blood:	n/a	n/a
14	ATF3	chr14:105554018-105555597	A549	lung:	n/a	chr14:105554697-105554706
15	ATF3	chr14:105554133-105554962	A549	lung:	n/a	chr14:105554697-105554706
16	BACH1	chr14:105553188-105553726	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr14:105554770-105554900	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr14:105554348-105554357	K562	blood:	n/a	n/a
19	BATF	chr14:105536272-105536860	GM12878	blood:	n/a	n/a
20	BATF	chr14:105535194-105535500	GM12878	blood:	n/a	n/a
21	BATF	chr14:105537151-105537484	GM12878	blood:	n/a	n/a
22	BATF	chr14:105553188-105553465	GM12878	blood:	n/a	n/a
23	BATF	chr14:105531625-105532007	GM12878	blood:	n/a	n/a
24	BATF	chr14:105533597-105533966	GM12878	blood:	n/a	n/a
25	BATF	chr14:105533606-105533956	GM12878	blood:	n/a	n/a
26	BATF	chr14:105547887-105548072	GM12878	blood:	n/a	n/a
27	BATF	chr14:105536132-105536977	GM12878	blood:	n/a	n/a
28	BCL11A	chr14:105537096-105537427	GM12878	blood:	n/a	n/a
29	BCL11A	chr14:105536105-105536823	GM12878	blood:	n/a	chr14:105536582-105536591 chr14:105536581-105536590 chr14:105536343-105536352
30	BCL11A	chr14:105533622-105533966	GM12878	blood:	n/a	chr14:105533866-105533874
31	BCL11A	chr14:105531576-105532060	GM12878	blood:	n/a	n/a
32	BCL11A	chr14:105532774-105533118	GM12878	blood:	n/a	chr14:105532994-105533003
33	BCL11A	chr14:105531576-105531988	GM12878	blood:	n/a	n/a
34	BCL11A	chr14:105536100-105536935	GM12878	blood:	n/a	chr14:105536582-105536591 chr14:105536581-105536590 chr14:105536343-105536352
35	BCL3	chr14:105546552-105547128	A549	lung:	n/a	n/a
36	BCL3	chr14:105543573-105544484	A549	lung:	n/a	n/a
37	BCL3	chr14:105550198-105552633	A549	lung:	n/a	n/a
38	BCL3	chr14:105536131-105536912	GM12878	blood:	n/a	chr14:105536582-105536591 chr14:105536581-105536590 chr14:105536343-105536352
39	BCL3	chr14:105546409-105546934	GM12878	blood:	n/a	n/a
40	BCL3	chr14:105542851-105543263	A549	lung:	n/a	n/a
41	BCL3	chr14:105544405-105544933	A549	lung:	n/a	n/a
42	BCL3	chr14:105532742-105533181	GM12878	blood:	n/a	chr14:105532994-105533003
43	BCL3	chr14:105531569-105532133	GM12878	blood:	n/a	n/a
44	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
45	BCL3	chr14:105536085-105536815	GM12878	blood:	n/a	chr14:105536582-105536591 chr14:105536581-105536590 chr14:105536343-105536352
46	BCL3	chr14:105546281-105547182	A549	lung:	n/a	n/a
47	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
48	BCL3	chr14:105546497-105546864	GM12878	blood:	n/a	n/a
49	BCL3	chr14:105548176-105548509	A549	lung:	n/a	n/a
50	BCLAF1	chr14:105531564-105533180	GM12878	blood:	n/a	chr14:105532204-105532213 chr14:105532994-105533003

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105538414-105538464	H1-hESC	embryonic stem cell:	embryo
2	chr14:105532159-105532209	SKMC	muscle:	n/a
3	chr14:105538414-105538464	H1-hESC	embryonic stem cell:	embryo
4	chr14:105532159-105532209	SKMC	muscle:	n/a
5	chr14:105532159-105532209	HL-60	blood:	n/a
6	chr14:105553150-105553200	NHBE	bronchial:	n/a
7	chr14:105553234-105553284	MCF10A-Er-Src	breast:	n/a
8	chr14:105532252-105532302	IMR90	lung:	fetal
9	chr14:105538414-105538464	AoSMC	blood vessel:	n/a
10	chr14:105553234-105553284	ovcar-3	ovarian:	n/a
11	chr14:105555223-105555273	HIPEpiC	eye:	n/a
12	chr14:105545846-105545896	AG09319	gingival:	n/a
13	chr14:105554352-105554402	PANC-1	pancreas:	n/a
14	chr14:105532012-105532062	SK-N-SH_RA	brain:	n/a
15	chr14:105553520-105553570	AG10803	skin:	n/a
16	chr14:105542031-105542081	ProgFib	skin:	n/a
17	chr14:105554214-105554264	RPTEC	kidney:	n/a
18	chr14:105554352-105554402	GM12892	blood:	n/a
19	chr14:105553575-105553625	MCF10A-Er-Src	breast:	n/a
20	chr14:105538516-105538566	Caco-2	colon:	n/a
21	chr14:105532208-105532258	HCF	heart:	n/a
22	chr14:105554214-105554264	HCPEpiC	choroid plexus:	n/a
23	chr14:105553150-105553200	LNCaP	prostate:	n/a
24	chr14:105538481-105538531	HRPEpiC	eye:	n/a
25	chr14:105538516-105538566	HRCEpiC	kidney:	n/a
26	chr14:105532252-105532302	Jurkat	blood:	n/a
27	chr14:105538516-105538566	HIPEpiC	eye:	n/a
28	chr14:105538414-105538464	HIPEpiC	eye:	n/a
29	chr14:105532159-105532209	Hepatocyte	liver:	n/a
30	chr14:105553575-105553625	PANC-1	pancreas:	n/a
31	chr14:105538516-105538566	AG04449	skin:	fetal
32	chr14:105553150-105553200	HRPEpiC	eye:	n/a
33	chr14:105555223-105555273	GM12892	blood:	n/a
34	chr14:105553150-105553200	HCF	heart:	n/a
35	chr14:105538516-105538566	HCT-116	colon:	n/a
36	chr14:105545846-105545896	HRPEpiC	eye:	n/a
37	chr14:105553520-105553570	HAEpiC	amniotic membrane:	n/a
38	chr14:105553575-105553625	SAEC	small airway:	n/a
39	chr14:105554352-105554402	GM06990	blood:	n/a
40	chr14:105554214-105554264	ECC-1	luminal epithelium:	n/a
41	chr14:105538481-105538531	H1-hESC	embryonic stem cell:	embryo
42	chr14:105545846-105545896	SK-N-SH	brain:	n/a
43	chr14:105532252-105532302	PFSK-1	brain:	n/a
44	chr14:105553234-105553284	CMK	blood:	n/a
45	chr14:105538481-105538531	ProgFib	skin:	n/a
46	chr14:105553520-105553570	GM12878	blood:	n/a
47	chr14:105538516-105538566	BE2_C	brain:	n/a
48	chr14:105545846-105545896	RPTEC	kidney:	n/a
49	chr14:105545846-105545896	GM12891	blood:	n/a
50	chr14:105538516-105538566	HNPCEpiC	eye:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:105439903..105442825-chr14:105553149..105554969,2	MCF-7	breast:
2	chr14:105531056..105532748-chr14:105533772..105537041,3	K562	blood:
3	chr14:105538481..105541276-chr14:105553556..105555941,2	K562	blood:
4	chr14:105546872..105548479-chr14:105554881..105556792,2	K562	blood:
5	chr14:105442512..105445179-chr14:105546981..105549591,3	MCF-7	breast:
6	chr14:105441809..105443191-chr14:105552782..105553787,10	MCF-7	breast:
7	chr14:105539179..105546592-chr14:105547833..105554421,6	K562	blood:
8	chr14:105552235..105554666-chr14:105628025..105629965,2	MCF-7	breast:
9	chr14:105447414..105449078-chr14:105542830..105544424,2	MCF-7	breast:
10	chr14:105453654..105456593-chr14:105536363..105538256,2	MCF-7	breast:
11	chr14:105537608..105540428-chr14:105542339..105544754,4	MCF-7	breast:
12	chr14:105546872..105548479-chr14:105554881..105556792,2	K562	blood:
13	chr14:105539437..105542411-chr14:105625371..105627547,2	K562	blood:
14	chr14:105532364..105534245-chr14:105540275..105543125,2	K562	blood:
15	chr14:105519148..105521520-chr14:105539109..105541488,2	K562	blood:
16	chr14:105526612..105528156-chr14:105531987..105533882,2	MCF-7	breast:
17	chr14:105442748..105444564-chr14:105532745..105535377,2	MCF-7	breast:
18	chr14:105553496..105555474-chr14:105559584..105561401,3	K562	blood:
19	chr14:105487065..105489354-chr14:105552819..105555083,2	K562	blood:
20	chr14:105541634..105546414-chr14:105550039..105556215,6	MCF-7	breast:
21	chr14:105538481..105541276-chr14:105553556..105555941,2	K562	blood:
22	chr14:105541691..105543848-chr14:105863870..105865478,2	MCF-7	breast:
23	chr14:105532364..105534245-chr14:105540275..105543125,2	K562	blood:
24	chr14:105442222..105443029-chr14:105532523..105533452,3	MCF-7	breast:
25	chr14:105537608..105540428-chr14:105542339..105544754,4	MCF-7	breast:
26	chr14:105553187..105555561-chr14:105589136..105591325,2	MCF-7	breast:
27	chr14:105444537..105448423-chr14:105550882..105555382,4	MCF-7	breast:
28	chr14:105440744..105442653-chr14:105551168..105553091,2	MCF-7	breast:
29	chr14:105542484..105544320-chr14:105548331..105550005,2	MCF-7	breast:
30	chr14:105550667..105552367-chr14:105554467..105556280,2	K562	blood:
31	chr14:105540338..105543135-chr14:105547217..105549432,3	K562	blood:
32	chr14:105437250..105440570-chr14:105553722..105556644,3	MCF-7	breast:
33	chr14:105437778..105440413-chr14:105535668..105537696,2	MCF-7	breast:
34	chr14:105550862..105553369-chr14:105650448..105653112,3	MCF-7	breast:
35	chr14:105330424..105332507-chr14:105554490..105556010,2	MCF-7	breast:
36	chr14:105555328..105560254-chr14:105631379..105635555,5	MCF-7	breast:
37	chr14:105551472..105556224-chr14:105557135..105561197,4	K562	blood:
38	chr14:105540338..105543135-chr14:105547217..105549432,3	K562	blood:
39	chr14:105362768..105363662-chr14:105553187..105553782,2	MCF-7	breast:
40	chr14:105526681..105528779-chr14:105538234..105540945,2	K562	blood:
41	chr14:105541940..105543448-chr14:105558104..105559608,2	K562	blood:
42	chr14:105444336..105445214-chr14:105553267..105554067,2	K562	blood:
43	chr14:105550667..105552367-chr14:105554467..105556280,2	K562	blood:
44	chr14:105552947..105555057-chr14:105555509..105557119,2	K562	blood:
45	chr14:105542484..105544320-chr14:105548331..105550005,2	MCF-7	breast:
46	chr14:105523701..105528430-chr14:105538405..105542749,4	K562	blood:
47	chr14:105488320..105490306-chr14:105542807..105544380,2	MCF-7	breast:
48	chr14:105539179..105546592-chr14:105547833..105554421,6	K562	blood:
49	chr14:105441876..105443118-chr14:105552847..105553563,3	MCF-7	breast:
50	chr14:105441607..105442989-chr14:105532142..105533415,5	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR132-1	chr14:105533801-105534066	XLOC_011152
2	lnc-GPR132-1	chr14:105538497-105539070	XLOC_011152
3	lnc-C14orf79-1	chr14:105543887-105543911	XLOC_010951
4	lnc-C14orf79-1	chr14:105543608-105543786	XLOC_010951
5	lnc-GPR132-1	chr14:105532071-105532089	XLOC_011152
6	lnc-GPR132-1	chr14:105536959-105537000	XLOC_011152

No data

Variant related genes	Relation type
ENSG00000257556	TF binding region
GPR132	TF binding region
ENSG00000257556	CpG island
GPR132	CpG island
ENSG00000226174	chromatin interactions
ENSG00000183484	chromatin interactions
ENSG00000184916	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000257556	chromatin interactions
ENSG00000170779	chromatin interactions
PLDN	miRNA target sites

Extended variants
information (count: 1005 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1005 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3809470	chr14:105531945-105531946	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3809469	chr14:105532002-105532003	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554205408	chr14:105532003-105532004	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs147413248	chr14:105532014-105532015	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs539702435	chr14:105532015-105532016	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs57331203	chr14:105532021-105532022	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs187130036	chr14:105532023-105532024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs141174565	chr14:105532026-105532027	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs576204774	chr14:105532030-105532031	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs111626058	chr14:105532031-105532032	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs541576041	chr14:105532044-105532045	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs555049811	chr14:105532048-105532049	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs571796557	chr14:105532052-105532053	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs139153790	chr14:105532159-105532160	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs563725953	chr14:105532208-105532209	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs540100352	chr14:105532238-105532239	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs556900240	chr14:105532257-105532258	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs546500177	chr14:105532340-105532341	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs562995512	chr14:105532370-105532371	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541274787	chr14:105532379-105532380	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs35767183	chr14:105532407-105532408	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs368688671	chr14:105532412-105532413	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548791062	chr14:105532425-105532426	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs377152604	chr14:105532441-105532442	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs191561627	chr14:105532456-105532457	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs149923260	chr14:105532458-105532459	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs144948124	chr14:105532471-105532472	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs148627909	chr14:105532473-105532474	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs143210427	chr14:105532540-105532541	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201037938	chr14:105532650-105532651	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556425101	chr14:105532651-105532652	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369039808	chr14:105532656-105532657	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542425128	chr14:105532663-105532664	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535304482	chr14:105532777-105532778	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs35858045	chr14:105532786-105532787	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555122983	chr14:105532788-105532789	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181368174	chr14:105532789-105532790	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555718943	chr14:105532809-105532810	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs3825765	chr14:105532812-105532813	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533290359	chr14:105532835-105532836	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs186282355	chr14:105532846-105532847	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs146665759	chr14:105532847-105532848	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563236533	chr14:105532857-105532858	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371558443	chr14:105532864-105532865	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs375047578	chr14:105532888-105532889	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542469028	chr14:105532919-105532920	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs373438251	chr14:105532947-105532948	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs376423979	chr14:105533014-105533015	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562250392	chr14:105533083-105533084	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs527852501	chr14:105533105-105533106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
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
Breast cancer	22522925	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105525600-105534200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr14:105525800-105533400	Weak transcription	Osteobl	bone
3	chr14:105526400-105532800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr14:105528800-105532000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:105528800-105532000	Weak transcription	Right Ventricle	heart
6	chr14:105528800-105542000	Weak transcription	Right Atrium	heart
7	chr14:105529600-105532800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr14:105530400-105532000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:105530400-105532200	Active TSS	Brain Hippocampus Middle	brain
10	chr14:105530400-105532400	Active TSS	Rectal Smooth Muscle	rectum
11	chr14:105530400-105532600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:105530600-105532000	Active TSS	Brain Cingulate Gyrus	brain
13	chr14:105530600-105532600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:105530800-105532000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:105530800-105532000	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr14:105530800-105532000	Active TSS	Colonic Mucosa	Colon
17	chr14:105530800-105532000	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr14:105530800-105532400	Active TSS	Esophagus	oesophagus
19	chr14:105531000-105532000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:105531000-105532000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:105531000-105532000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:105531000-105532000	Active TSS	Stomach Smooth Muscle	stomach
23	chr14:105531000-105532200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:105531000-105532200	Flanking Active TSS	Fetal Thymus	thymus
25	chr14:105531000-105532200	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr14:105531000-105532200	Enhancers	Stomach Mucosa	stomach
27	chr14:105531000-105532400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:105531000-105532400	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr14:105531000-105532600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:105531000-105532600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:105531000-105532600	Enhancers	NH-A	brain
32	chr14:105531000-105532800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:105531000-105534400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:105531000-105534600	Enhancers	Spleen	Spleen
35	chr14:105531200-105532400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:105531200-105533000	Enhancers	Lung	lung
37	chr14:105531400-105532000	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr14:105531400-105532000	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:105531400-105532000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:105531400-105532000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr14:105531400-105532000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:105531400-105532000	Enhancers	HSMMtube	muscle
43	chr14:105531400-105532600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:105531400-105542800	Weak transcription	Gastric	stomach
45	chr14:105531600-105532000	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr14:105531600-105532000	Active TSS	Primary B cells from peripheral blood	blood
47	chr14:105531600-105532000	Active TSS	Primary T cells from cord blood	blood
48	chr14:105531600-105532000	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:105531600-105532000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr14:105531600-105532000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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