Variant report

Variant	rs7745188
Chromosome Location	chr6:142580952-142580953
allele	G/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	CEBPB	chr6:142580911-142580958	K562	blood:	n/a	n/a
2	TBP	chr6:142580492-142581025	HepG2	liver:	n/a	n/a
3	HNF4G	chr6:142580530-142581104	HepG2	liver:	n/a	n/a
4	JUND	chr6:142580771-142581027	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:142580230-142581135	HepG2	liver:	n/a	chr6:142580477-142580489
6	EP300	chr6:142580486-142581152	HepG2	liver:	n/a	n/a
7	HNF4A	chr6:142580519-142581061	HepG2	liver:	n/a	chr6:142580911-142580926
8	HDAC2	chr6:142580637-142581023	HepG2	liver:	n/a	n/a
9	CHD2	chr6:142580553-142581074	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:142580473-142581035	HepG2	liver:	n/a	n/a
11	MYBL2	chr6:142580319-142581080	HepG2	liver:	n/a	n/a
12	MYBL2	chr6:142580353-142581196	HepG2	liver:	n/a	n/a
13	EP300	chr6:142580726-142581074	HepG2	liver:	n/a	n/a
14	TEAD4	chr6:142580418-142581158	HepG2	liver:	n/a	n/a
15	SMC3	chr6:142580479-142581055	HepG2	liver:	n/a	n/a
16	HDAC2	chr6:142580559-142581078	HepG2	liver:	n/a	n/a
17	FOXA1	chr6:142580734-142581037	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:142580567-142581056	HepG2	liver:	n/a	n/a
19	EP300	chr6:142580599-142581189	HepG2	liver:	n/a	n/a
20	HEY1	chr6:142580511-142581076	HepG2	liver:	n/a	n/a
21	CEBPB	chr6:142580809-142581035	HepG2	liver:	n/a	n/a
22	HNF4G	chr6:142580565-142581214	HepG2	liver:	n/a	n/a
23	CEBPB	chr6:142580482-142581048	A549	lung:	n/a	n/a
24	HNF4A	chr6:142580460-142581095	HepG2	liver:	n/a	chr6:142580911-142580926
25	FOXA1	chr6:142580334-142581094	HepG2	liver:	n/a	chr6:142580477-142580489
26	POLR2A	chr6:142580613-142581013	HepG2	liver:	n/a	n/a
27	FOXA2	chr6:142580758-142580987	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:142580655-142580952	HepG2	liver:	n/a	n/a
29	MBD4	chr6:142580528-142581107	HepG2	liver:	n/a	n/a
30	HEY1	chr6:142580533-142581017	HepG2	liver:	n/a	n/a
31	ARID3A	chr6:142580710-142581132	HepG2	liver:	n/a	n/a
32	CEBPB	chr6:142580016-142581136	HepG2	liver:	n/a	n/a
33	BHLHE40	chr6:142580727-142581056	HepG2	liver:	n/a	n/a
34	BRCA1	chr6:142580655-142580981	HepG2	liver:	n/a	n/a
35	ZBTB33	chr6:142580693-142581027	HepG2	liver:	n/a	chr6:142580864-142580879
36	HNF4A	chr6:142580583-142581113	HepG2	liver:	n/a	chr6:142580911-142580926
37	CEBPB	chr6:142580397-142581083	HepG2	liver:	n/a	n/a
38	NFIC	chr6:142580468-142581217	HepG2	liver:	n/a	n/a
39	SP1	chr6:142580607-142581161	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000237494	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1475772	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1931989	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1931990	0.85[ASN][1000 genomes]
rs2328322	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2782533	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2782538	0.95[ASN][1000 genomes]
rs2795303	0.88[ASN][1000 genomes]
rs2795306	0.96[ASN][1000 genomes]
rs9321859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9484606	0.96[ASN][1000 genomes]
rs9484607	0.97[EUR][1000 genomes]
rs9496306	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9496309	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5511	chr6:142550032-142594960	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7745188	HIVEP2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142578000-142581000	Enhancers	Placenta	Placenta
2	chr6:142580000-142581000	Enhancers	Fetal Intestine Small	intestine
3	chr6:142580200-142581000	Flanking Active TSS	HepG2	liver
4	chr6:142580600-142581000	Flanking Active TSS	Liver	Liver
5	chr6:142580600-142581000	Enhancers	Duodenum Mucosa	Duodenum
6	chr6:142580800-142583000	Weak transcription	Aorta	Aorta
7	chr6:142580800-142583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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