Variant report

Variant	rs12701864
Chromosome Location	chr7:41142944-41142945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10227446	0.87[ASN][1000 genomes]
rs10227663	0.85[ASN][1000 genomes]
rs10242681	0.81[CEU][hapmap]
rs10256962	0.87[ASN][1000 genomes]
rs10258940	0.82[ASN][1000 genomes]
rs10274211	0.82[ASN][1000 genomes]
rs10279346	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10755853	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10755854	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12670349	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12701863	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12701875	0.81[CEU][hapmap]
rs13222193	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13222281	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13234888	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13246656	0.94[ASN][1000 genomes]
rs1859692	0.90[ASN][1000 genomes]
rs1859693	0.83[ASN][1000 genomes]
rs1859694	0.88[ASN][1000 genomes]
rs2108155	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108156	0.83[ASN][1000 genomes]
rs2190329	0.87[ASN][1000 genomes]
rs2330001	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28880	0.82[ASN][1000 genomes]
rs29476	0.82[ASN][1000 genomes]
rs29477	0.82[ASN][1000 genomes]
rs29478	0.82[ASN][1000 genomes]
rs29479	0.87[ASN][1000 genomes]
rs29480	0.87[ASN][1000 genomes]
rs29481	0.86[ASN][1000 genomes]
rs29482	0.82[ASN][1000 genomes]
rs29503	0.88[ASN][1000 genomes]
rs29516	0.82[ASN][1000 genomes]
rs29517	0.82[ASN][1000 genomes]
rs4720399	0.82[ASN][1000 genomes]
rs4724027	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4724028	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4724029	0.85[ASN][1000 genomes]
rs6463004	0.89[ASN][1000 genomes]
rs6463005	0.87[ASN][1000 genomes]
rs6463006	0.85[ASN][1000 genomes]
rs6463007	0.85[ASN][1000 genomes]
rs6945256	0.89[ASN][1000 genomes]
rs6945901	0.85[ASN][1000 genomes]
rs6946898	0.85[ASN][1000 genomes]
rs6947021	0.90[ASN][1000 genomes]
rs6958423	0.85[ASN][1000 genomes]
rs6958959	0.90[ASN][1000 genomes]
rs6967416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6970635	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6971196	0.91[ASN][1000 genomes]
rs6971616	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6975061	0.91[ASN][1000 genomes]
rs6978132	0.90[ASN][1000 genomes]
rs7790556	0.84[ASN][1000 genomes]
rs7796964	0.81[CEU][hapmap]
rs7799191	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7805795	0.85[ASN][1000 genomes]
rs7809083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9632614	0.89[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	nsv1034605	chr7:41096638-41222426	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv887989	chr7:41125447-41337044	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12701864	MYL7	cis	parietal	SCAN
rs12701864	RND3	trans	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41129200-41175200	Weak transcription	Aorta	Aorta
2	chr7:41138200-41143000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:41138200-41143600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:41138400-41143000	Weak transcription	Osteobl	bone
5	chr7:41138400-41144000	Weak transcription	NHDF-Ad	bronchial
6	chr7:41138400-41144200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:41138600-41144200	Weak transcription	NH-A	brain
8	chr7:41139400-41143400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:41139800-41143000	Weak transcription	HMEC	breast
10	chr7:41142400-41144400	Enhancers	NHEK	skin
11	chr7:41142800-41143200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:41142800-41143200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:41142800-41143200	Enhancers	Hela-S3	cervix
14	chr7:41142800-41143400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:41142800-41143800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:41142800-41144800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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