Variant report

Variant	rs7827280
Chromosome Location	chr8:92335402-92335403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:92333958..92336708-chr8:92339173..92340832,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10101694	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11991583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13262139	0.94[ASN][1000 genomes]
rs13263714	0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13264260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs13266884	1.00[JPT][hapmap]
rs13275473	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280977	0.94[ASN][1000 genomes]
rs1375248	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1448674	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1562633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34115889	0.94[ASN][1000 genomes]
rs34213542	0.81[ASN][1000 genomes]
rs34444723	0.94[ASN][1000 genomes]
rs34547129	0.81[ASN][1000 genomes]
rs34775583	0.94[ASN][1000 genomes]
rs34948223	0.94[ASN][1000 genomes]
rs34966681	0.94[ASN][1000 genomes]
rs34982674	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159856	0.94[ASN][1000 genomes]
rs35162874	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35386021	0.94[ASN][1000 genomes]
rs35632298	0.94[ASN][1000 genomes]
rs35717576	0.81[ASN][1000 genomes]
rs35869355	0.81[ASN][1000 genomes]
rs4478534	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4629825	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639475	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6981751	0.94[ASN][1000 genomes]
rs6983115	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6995995	0.94[ASN][1000 genomes]
rs7002943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7007188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs7016454	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs71528791	0.81[ASN][1000 genomes]
rs71528792	0.94[ASN][1000 genomes]
rs7812726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs7814787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7817419	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823924	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7824716	0.94[ASN][1000 genomes]
rs7829485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831823	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7833573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834807	0.94[ASN][1000 genomes]
rs7836721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7846165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657000	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs968398	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996694	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92330400-92337200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:92332800-92335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:92332800-92336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:92332800-92337200	Weak transcription	HUVEC	blood vessel
5	chr8:92333000-92336600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:92333400-92336200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:92334800-92337800	Enhancers	HMEC	breast
8	chr8:92335000-92337800	Enhancers	NHEK	skin
9	chr8:92335400-92335800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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