Variant report

Variant	rs10224972
Chromosome Location	chr7:78659447-78659448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1006818	0.89[CEU][hapmap]
rs10231279	0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs10240536	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs10259881	0.82[CHB][hapmap];0.84[GIH][hapmap]
rs10269689	0.82[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs10485926	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12113491	0.84[CEU][hapmap]
rs12534480	0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap]
rs12537793	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs13229394	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs13438061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs13438576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1476106	0.89[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap]
rs2006635	0.89[CEU][hapmap]
rs2109713	0.89[CEU][hapmap]
rs2191724	0.81[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs2215546	0.82[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs2215547	0.81[CHB][hapmap]
rs4437570	0.92[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4730596	0.89[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap]
rs4730599	0.89[CEU][hapmap]
rs4730601	0.89[CEU][hapmap]
rs6466468	0.89[CEU][hapmap];0.91[CHB][hapmap]
rs6978423	0.92[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs727652	0.89[CEU][hapmap]
rs763593	0.82[CHB][hapmap]
rs7779315	0.89[CEU][hapmap]
rs7789063	0.89[CEU][hapmap]
rs7793390	0.82[CHB][hapmap];0.84[GIH][hapmap]
rs7805367	0.89[CEU][hapmap]
rs7809089	0.82[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv521257	chr7:78632489-78662425	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
rs10224972	MDH2	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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