Variant report

Variant	rs6971120
Chromosome Location	chr7:40899646-40899647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10226883	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10227436	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10231596	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10237052	0.84[ASN][1000 genomes]
rs10263468	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10263609	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10263717	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1029623	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1029624	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053953	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12019351	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1203578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12538907	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12538933	0.87[JPT][hapmap]
rs12538949	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12538965	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs17688697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17688924	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1859845	0.99[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1921753	0.84[ASN][1000 genomes]
rs1921754	0.84[ASN][1000 genomes]
rs1921755	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1921756	0.84[ASN][1000 genomes]
rs1921757	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2010706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108377	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28621645	0.84[ASN][1000 genomes]
rs2876979	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs4050954	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4050966	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4265100	0.84[ASN][1000 genomes]
rs4425648	0.84[ASN][1000 genomes]
rs4720378	0.84[ASN][1000 genomes]
rs4720379	0.84[ASN][1000 genomes]
rs4720380	0.84[ASN][1000 genomes]
rs4720381	0.84[ASN][1000 genomes]
rs4723982	0.84[ASN][1000 genomes]
rs4723983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67369140	0.84[ASN][1000 genomes]
rs6952818	0.84[ASN][1000 genomes]
rs6952995	0.84[ASN][1000 genomes]
rs6957123	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs6963162	0.84[ASN][1000 genomes]
rs6970936	0.84[ASN][1000 genomes]
rs699484	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732890	0.88[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs758010	0.84[ASN][1000 genomes]
rs7808121	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7808304	0.84[ASN][1000 genomes]
rs7808678	0.84[ASN][1000 genomes]
rs7809237	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7809981	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs9639838	0.80[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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:40880200-40905400	Weak transcription	HSMMtube	muscle
2	chr7:40890000-40919400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:40890200-40906200	Weak transcription	Osteobl	bone
4	chr7:40898600-40901200	Genic enhancers	HMEC	breast
5	chr7:40898800-40901200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:40898800-40901200	Enhancers	NHEK	skin
7	chr7:40899200-40900200	Strong transcription	Aorta	Aorta
8	chr7:40899200-40901400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:40899600-40901200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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