Variant report

Variant	rs62311118
Chromosome Location	chr4:91764307-91764308
allele	C/T
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	MAZ	chr4:91764238-91764385	HepG2	liver:	n/a	n/a
2	NFIC	chr4:91764123-91764523	HepG2	liver:	n/a	n/a
3	JUND	chr4:91764118-91764554	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:91764141-91764483	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:91764073-91764510	HepG2	liver:	n/a	n/a
6	JUN	chr4:91764278-91764462	HepG2	liver:	n/a	n/a
7	MYBL2	chr4:91763961-91764578	HepG2	liver:	n/a	n/a
8	FOXA2	chr4:91764080-91764462	HepG2	liver:	n/a	n/a
9	EBF1	chr4:91764096-91764531	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:91764236-91764357	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr4:91763940-91764494	GM12878	blood:	n/a	n/a
12	BHLHE40	chr4:91764019-91764516	GM12878	blood:	n/a	n/a
13	ATF2	chr4:91764109-91764393	GM12878	blood:	n/a	n/a
14	CHD2	chr4:91764103-91764464	GM12878	blood:	n/a	n/a
15	MEF2A	chr4:91764033-91764459	GM12878	blood:	n/a	chr4:91764198-91764213 chr4:91764198-91764213 chr4:91764184-91764192
16	SP1	chr4:91764015-91764476	HepG2	liver:	n/a	n/a
17	EP300	chr4:91763903-91764565	GM12878	blood:	n/a	chr4:91763914-91763927
18	EP300	chr4:91764070-91764492	HepG2	liver:	n/a	n/a
19	HNF4A	chr4:91764113-91764409	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:91764141-91764492	HepG2	liver:	n/a	n/a
21	STAT3	chr4:91764255-91764545	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr4:91764030-91764491	HepG2	liver:	n/a	n/a
23	MEF2C	chr4:91764067-91764449	GM12878	blood:	n/a	chr4:91764198-91764213 chr4:91764198-91764213 chr4:91764184-91764192
24	FOS	chr4:91764293-91764530	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXA1	chr4:91763934-91764542	HepG2	liver:	n/a	n/a
26	FOS	chr4:91764217-91764546	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:91764216-91764542	MCF10A-Er-Src	breast:	n/a	n/a
28	HNF4G	chr4:91764152-91764423	HepG2	liver:	n/a	chr4:91764323-91764338
29	HDAC2	chr4:91764154-91764441	HepG2	liver:	n/a	n/a
30	TBP	chr4:91763983-91764503	GM12878	blood:	n/a	n/a
31	FOS	chr4:91764252-91764483	MCF10A-Er-Src	breast:	n/a	n/a
32	BATF	chr4:91764216-91764449	GM12878	blood:	n/a	n/a
33	RUNX3	chr4:91764116-91764527	GM12878	blood:	n/a	n/a
34	ZNF384	chr4:91764085-91764598	GM12878	blood:	n/a	n/a
35	RCOR1	chr4:91763906-91764474	GM12878	blood:	n/a	n/a
36	RFX5	chr4:91764192-91764383	HepG2	liver:	n/a	n/a
37	EP300	chr4:91764054-91764480	GM12878	blood:	n/a	n/a
38	TBL1XR1	chr4:91764049-91764455	GM12878	blood:	n/a	n/a
39	TEAD4	chr4:91764041-91764549	HepG2	liver:	n/a	n/a
40	IRF4	chr4:91764089-91764568	GM12878	blood:	n/a	n/a
41	STAT3	chr4:91764247-91764471	MCF10A-Er-Src	breast:	n/a	n/a
42	BATF	chr4:91763992-91764477	GM12878	blood:	n/a	n/a
43	EP300	chr4:91764105-91764534	GM12878	blood:	n/a	n/a
44	MAFK	chr4:91764150-91764350	HepG2	liver:	n/a	n/a
45	BCL11A	chr4:91764174-91764464	GM12878	blood:	n/a	n/a
46	TBP	chr4:91764183-91764422	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
TMSB4XP8	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11097265	0.86[ASN][1000 genomes]
rs17017577	0.86[ASN][1000 genomes]
rs17017712	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17017713	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17017714	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17017719	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17247845	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17248109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17248648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2123954	0.86[ASN][1000 genomes]
rs2271591	0.86[ASN][1000 genomes]
rs62309559	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62311062	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62311065	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62311066	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62311068	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62311069	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62311070	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62311071	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62311072	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62311074	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62311075	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62311076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62311109	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62311110	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62311111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62311112	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62311114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62311119	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62311124	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62311125	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62312980	0.84[ASN][1000 genomes]
rs62312983	0.84[ASN][1000 genomes]
rs62312984	0.84[ASN][1000 genomes]
rs62312985	0.84[ASN][1000 genomes]
rs62312986	0.84[ASN][1000 genomes]
rs62312987	0.84[ASN][1000 genomes]
rs62312992	0.84[ASN][1000 genomes]
rs62312994	0.84[ASN][1000 genomes]
rs62312997	0.84[ASN][1000 genomes]
rs62313022	0.84[ASN][1000 genomes]
rs62313025	0.86[ASN][1000 genomes]
rs62313055	0.81[ASN][1000 genomes]
rs62313056	0.84[ASN][1000 genomes]
rs62313057	0.86[ASN][1000 genomes]
rs6841566	0.84[ASN][1000 genomes]
rs720327	0.86[ASN][1000 genomes]
rs72663610	0.86[ASN][1000 genomes]
rs72663613	0.86[ASN][1000 genomes]
rs72663648	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72663649	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72663663	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534470	chr4:91342219-91842807	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv428766	chr4:91618397-91768647	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879553	chr4:91691313-91868576	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv879555	chr4:91743538-91967602	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv4422	chr4:91744177-91789188	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91752400-91775000	Weak transcription	Pancreas	Pancrea
2	chr4:91754600-91771400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:91761600-91764600	Enhancers	HMEC	breast
4	chr4:91761600-91764600	Enhancers	NHEK	skin
5	chr4:91763000-91764600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:91763000-91766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:91763400-91765000	Enhancers	HepG2	liver
8	chr4:91763600-91764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:91763600-91764600	Enhancers	Fetal Intestine Small	intestine
10	chr4:91763800-91764400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:91763800-91764600	Enhancers	Fetal Intestine Large	intestine
12	chr4:91763800-91766600	Weak transcription	HUVEC	blood vessel
13	chr4:91764200-91766000	Weak transcription	A549	lung

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