Variant report

Variant	rs6816136
Chromosome Location	chr4:88316587-88316588
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	HEY1	chr4:88316453-88316750	K562	blood:	n/a	n/a
2	HEY1	chr4:88316465-88316696	HepG2	liver:	n/a	n/a
3	HEY1	chr4:88316499-88316733	K562	blood:	n/a	n/a
4	NFYB	chr4:88316553-88316812	K562	blood:	n/a	n/a
5	POLR2A	chr4:88316456-88316694	HepG2	liver:	n/a	n/a
6	HEY1	chr4:88316387-88316641	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88315473..88317637-chr4:88397561..88399533,2	K562	blood:

Variant related genes	Relation type
HSD17B11	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10008963	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10009776	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10015443	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10017282	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10034240	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10213468	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11097151	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13119798	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13122902	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28439403	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4388049	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6531987	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6531988	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6531994	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6531995	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6531997	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67796586	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847168	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7666886	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7673045	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7695235	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9307036	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9968511	0.90[AMR][1000 genomes];0.95[EUR][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	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88313000-88320400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:88313000-88320400	Weak transcription	Pancreas	Pancrea
3	chr4:88313200-88320800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:88316000-88316600	Active TSS	Primary T cells from cord blood	blood

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