Variant report

Variant	rs1950988
Chromosome Location	chr14:63499335-63499336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1007062	1.00[CEU][hapmap]
rs10129513	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs10130015	0.88[CEU][hapmap]
rs10132214	0.88[CEU][hapmap];0.88[CHB][hapmap]
rs10132410	0.82[CEU][hapmap]
rs10133358	1.00[CEU][hapmap]
rs10139542	0.82[CEU][hapmap]
rs10141458	0.87[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs10142476	0.83[CEU][hapmap]
rs10146400	0.92[ASN][1000 genomes]
rs11158468	1.00[CEU][hapmap]
rs11624884	1.00[CEU][hapmap]
rs12587142	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12587171	0.87[CEU][hapmap];0.95[CHB][hapmap]
rs1316916	0.80[MEX][hapmap]
rs1950975	0.85[MEX][hapmap]
rs1950986	0.88[CEU][hapmap]
rs1950989	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs1950990	0.83[CEU][hapmap]
rs28376422	0.87[ASN][1000 genomes]
rs3906692	0.86[MEX][hapmap]
rs3906693	1.00[CEU][hapmap]
rs3910328	0.83[CEU][hapmap];0.86[MEX][hapmap]
rs3910329	0.87[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs4257136	0.82[ASN][1000 genomes]
rs4635259	0.82[ASN][1000 genomes]
rs5010674	1.00[CEU][hapmap]
rs5010675	1.00[CEU][hapmap]
rs5010676	1.00[CEU][hapmap]
rs61995096	0.92[ASN][1000 genomes]
rs6573475	1.00[CEU][hapmap]
rs6573477	0.86[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7141489	0.88[ASN][1000 genomes]
rs7157827	0.82[ASN][1000 genomes]
rs7159483	0.83[CEU][hapmap]
rs7159948	1.00[CEU][hapmap]
rs7160761	0.83[CEU][hapmap];0.86[MEX][hapmap]
rs8004263	0.87[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs8005258	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs8018212	1.00[CEU][hapmap]
rs8021399	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9323430	0.83[CEU][hapmap];0.86[MEX][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1950988	C3orf79	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63497400-63502800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:63498800-63499600	Enhancers	Fetal Stomach	stomach
3	chr14:63499200-63499600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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