Variant report

Variant	rs7580520
Chromosome Location	chr2:63909178-63909179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10168545	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1023820	1.00[JPT][hapmap]
rs1031221	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs10469944	1.00[JPT][hapmap]
rs10469945	1.00[JPT][hapmap]
rs10865338	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs11125977	0.82[CEU][hapmap]
rs11693909	1.00[JPT][hapmap]
rs12105140	1.00[JPT][hapmap]
rs1255	1.00[JPT][hapmap]
rs12713496	1.00[JPT][hapmap]
rs13431437	1.00[CHB][hapmap]
rs1446564	1.00[JPT][hapmap]
rs1446565	1.00[JPT][hapmap]
rs1446569	1.00[JPT][hapmap]
rs1550860	1.00[JPT][hapmap]
rs171901	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1867847	1.00[JPT][hapmap]
rs1867849	1.00[JPT][hapmap]
rs196124	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2028887	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2121350	1.00[JPT][hapmap]
rs2166494	1.00[JPT][hapmap]
rs2305157	1.00[JPT][hapmap]
rs2421952	0.82[CEU][hapmap]
rs2422007	1.00[JPT][hapmap]
rs2422011	1.00[JPT][hapmap]
rs2604613	1.00[JPT][hapmap]
rs262470	1.00[JPT][hapmap]
rs262472	1.00[JPT][hapmap]
rs262473	1.00[JPT][hapmap]
rs262477	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs262478	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs262479	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs262490	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs262491	1.00[JPT][hapmap]
rs262527	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs262536	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs262537	1.00[JPT][hapmap]
rs4671065	1.00[JPT][hapmap]
rs4671515	1.00[JPT][hapmap]
rs6546007	0.82[CEU][hapmap]
rs6546018	1.00[JPT][hapmap]
rs6546019	1.00[JPT][hapmap]
rs6708804	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6717031	1.00[JPT][hapmap]
rs6738190	1.00[JPT][hapmap]
rs7570031	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs7576316	1.00[JPT][hapmap]
rs7584404	1.00[JPT][hapmap]
rs7606045	1.00[JPT][hapmap]
rs959195	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs964880	1.00[JPT][hapmap]
rs964903	1.00[JPT][hapmap]
rs9789351	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs989527	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7580520	MDH1	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63896400-63911400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:63905600-63909200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:63905800-63909200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:63907400-63909200	Enhancers	Psoas Muscle	Psoas
5	chr2:63908200-63909200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:63908400-63909200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:63908400-63909400	Enhancers	NHEK	skin
8	chr2:63908600-63909200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:63908800-63923400	Weak transcription	Adipose Nuclei	Adipose

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