Variant report

Variant	rs17714523
Chromosome Location	chr7:40892228-40892229
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1013575	1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1013576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10486815	1.00[EUR][1000 genomes]
rs11981180	1.00[EUR][1000 genomes]
rs12531154	1.00[EUR][1000 genomes]
rs12531482	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531846	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532716	1.00[EUR][1000 genomes]
rs12532916	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12534713	1.00[EUR][1000 genomes]
rs12534734	1.00[EUR][1000 genomes]
rs12538260	1.00[EUR][1000 genomes]
rs12538963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12539159	1.00[EUR][1000 genomes]
rs12540647	1.00[EUR][1000 genomes]
rs12540736	1.00[EUR][1000 genomes]
rs12540807	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17171765	1.00[EUR][1000 genomes]
rs17171779	1.00[EUR][1000 genomes]
rs17171781	1.00[EUR][1000 genomes]
rs17171782	1.00[EUR][1000 genomes]
rs17714132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714215	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17770820	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1921751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1990190	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2079507	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2302027	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35105954	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720372	1.00[EUR][1000 genomes]
rs4720374	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720375	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4720382	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4720383	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723975	1.00[EUR][1000 genomes]
rs4723981	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs723837	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7781779	1.00[EUR][1000 genomes]
rs7794957	1.00[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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40880200-40905400	Weak transcription	HSMMtube	muscle
2	chr7:40884200-40898800	Weak transcription	NHEK	skin
3	chr7:40884600-40899200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:40889600-40898600	Weak transcription	HMEC	breast
5	chr7:40890000-40894200	Weak transcription	Aorta	Aorta
6	chr7:40890000-40896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:40890000-40919400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:40890200-40906200	Weak transcription	Osteobl	bone

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