Variant report

Variant	rs7834217
Chromosome Location	chr8:130779642-130779643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130778949..130780935-chr8:130781435..130782937,2	K562	blood:
2	chr8:130779065..130781397-chr8:130798762..130800424,2	MCF-7	breast:
3	chr8:130777382..130781561-chr8:130783248..130785671,3	K562	blood:

Variant related genes	Relation type
ENSG00000147697	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10094445	0.86[ASN][1000 genomes]
rs10096604	0.88[ASN][1000 genomes]
rs10097810	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098559	0.88[ASN][1000 genomes]
rs10956495	0.88[ASN][1000 genomes]
rs1600931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1905168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1979475	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979476	0.86[ASN][1000 genomes]
rs1988911	0.86[ASN][1000 genomes]
rs2128386	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2894495	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3912318	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3957254	0.81[ASN][1000 genomes]
rs4103049	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs4260864	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383938	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4412339	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4500051	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733741	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs6470781	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470782	0.85[ASN][1000 genomes]
rs6470783	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983184	0.86[ASN][1000 genomes]
rs73406845	0.84[ASN][1000 genomes]
rs7821985	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823788	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834660	0.86[ASN][1000 genomes]
rs9656980	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130767200-130780600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:130776600-130780200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:130777800-130780000	Strong transcription	NHEK	skin
4	chr8:130778800-130781800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:130779200-130780000	Enhancers	Spleen	Spleen
6	chr8:130779600-130780400	Enhancers	Esophagus	oesophagus

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