Variant report

Variant	rs571376
Chromosome Location	chr7:78483211-78483212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1121068	0.82[MKK][hapmap]
rs1207819	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs1207820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12670051	0.87[ASN][1000 genomes]
rs1330497	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs1330498	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1642897	0.92[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap]
rs17454991	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1799011	0.83[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap]
rs1799013	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs1799014	0.92[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap]
rs1799015	0.92[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap]
rs1799027	0.83[MKK][hapmap]
rs1928911	0.87[ASN][1000 genomes]
rs1928912	0.87[ASN][1000 genomes]
rs2065198	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs472023	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs4730552	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs474780	0.89[ASN][1000 genomes]
rs488478	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.89[ASN][1000 genomes]
rs491394	0.96[ASN][1000 genomes]
rs492944	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs504216	0.85[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap]
rs508142	0.88[ASN][1000 genomes]
rs508789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs508841	0.87[ASN][1000 genomes]
rs514025	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.89[ASN][1000 genomes]
rs514156	1.00[CHB][hapmap];0.87[JPT][hapmap];0.99[ASN][1000 genomes]
rs514951	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.89[ASN][1000 genomes]
rs516085	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522601	0.99[ASN][1000 genomes]
rs527231	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.89[ASN][1000 genomes]
rs529602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535355	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs541737	0.93[ASN][1000 genomes]
rs546953	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap]
rs550607	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs552822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs563887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs564808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs571502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs573635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs576744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs578047	0.91[ASN][1000 genomes]
rs578326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs62467691	0.88[EUR][1000 genomes]
rs6950191	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7794352	0.85[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs961928	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs9641491	0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs969699	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap]

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	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv949647	chr7:78406281-78495913	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs571376	SRRM3	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78478600-78484600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:78478600-78484600	Enhancers	HSMM	muscle
3	chr7:78482200-78484200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:78482600-78484000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:78483000-78483400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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