Variant report

Variant	rs985175
Chromosome Location	chr7:78666050-78666051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1006818	0.95[CHD][hapmap]
rs10224582	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs10226001	0.97[CHD][hapmap];0.82[TSI][hapmap]
rs10231279	0.87[CEU][hapmap];0.86[TSI][hapmap]
rs10240536	0.91[CEU][hapmap];0.93[TSI][hapmap]
rs12113491	0.95[CHD][hapmap]
rs12536821	0.80[CHB][hapmap];0.95[CHD][hapmap]
rs12539532	0.80[CHB][hapmap];0.97[CHD][hapmap];0.82[TSI][hapmap]
rs12540352	0.83[CEU][hapmap]
rs12540925	0.83[CEU][hapmap]
rs17151881	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2098180	0.82[CEU][hapmap]
rs2109713	0.80[CHB][hapmap];0.95[CHD][hapmap]
rs2159687	0.95[CHD][hapmap]
rs2191730	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2280607	0.80[CHB][hapmap]
rs4727794	0.82[CEU][hapmap]
rs4727796	0.97[CHD][hapmap]
rs4730597	0.80[CHB][hapmap]
rs4730599	0.80[CHB][hapmap];0.95[CHD][hapmap]
rs4730601	0.85[CHB][hapmap];0.95[CHD][hapmap]
rs4730619	0.82[CEU][hapmap];0.80[CHB][hapmap]
rs6946707	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs6954088	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6962482	0.86[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs6964007	0.81[CEU][hapmap]
rs7792974	0.95[CHD][hapmap]
rs7805367	0.93[CHD][hapmap]
rs984312	0.80[CHB][hapmap];0.95[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv482826	chr7:78548319-78717605	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471642	chr7:78548320-78717605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv831040	chr7:78623195-78831998	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv607660	chr7:78644077-78666050	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs985175	MDH2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78665400-78667000	Enhancers	Fetal Lung	lung
2	chr7:78665400-78667400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:78665800-78666400	Enhancers	Colon Smooth Muscle	Colon

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