Variant report

Variant	rs12540807
Chromosome Location	chr7:40850196-40850197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1013575	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1013576	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486815	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1160778	1.00[AFR][1000 genomes]
rs11981180	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531154	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531482	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12531846	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12532716	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532916	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12534371	1.00[AFR][1000 genomes]
rs12534713	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12534734	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12536716	1.00[AFR][1000 genomes]
rs12538260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12538963	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12539159	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540647	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540736	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171765	1.00[EUR][1000 genomes]
rs17171779	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171781	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171782	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714132	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17714215	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17714523	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17714657	1.00[AFR][1000 genomes]
rs17770820	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1921751	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1990190	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2079507	1.00[AFR][1000 genomes]
rs2302027	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35105954	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4720372	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720374	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4720375	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4720376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720382	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720383	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4723975	1.00[EUR][1000 genomes]
rs4723981	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs723837	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7781779	1.00[EUR][1000 genomes]
rs7794957	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv830973	chr7:40816419-40851594	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40844400-40850600	Enhancers	HSMM	muscle
2	chr7:40844600-40850400	Enhancers	HSMMtube	muscle
3	chr7:40846600-40850200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:40848800-40850600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:40848800-40854200	Weak transcription	HMEC	breast
6	chr7:40849000-40850600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:40849200-40850400	Weak transcription	Primary B cells from cord blood	blood
8	chr7:40849800-40850600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:40849800-40854600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:40849800-40854800	Weak transcription	Osteobl	bone
11	chr7:40850000-40850600	Weak transcription	NHDF-Ad	bronchial
12	chr7:40850000-40854600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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