Variant report

Variant	rs873183
Chromosome Location	chr3:161072725-161072726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12631095	0.82[JPT][hapmap]
rs12632351	1.00[CHD][hapmap]
rs12632514	0.85[CHD][hapmap]
rs12632537	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12632686	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12634006	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12634319	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12634781	0.82[JPT][hapmap]
rs16832203	0.88[EUR][1000 genomes]
rs28713364	0.82[EUR][1000 genomes]
rs462514	0.85[JPT][hapmap]
rs56230831	0.84[ASN][1000 genomes]
rs57278490	0.95[EUR][1000 genomes]
rs57496534	0.95[EUR][1000 genomes]
rs57803909	0.95[EUR][1000 genomes]
rs57916312	0.86[EUR][1000 genomes]
rs57974280	0.82[EUR][1000 genomes]
rs58350275	0.95[EUR][1000 genomes]
rs58550445	0.86[ASN][1000 genomes]
rs58557417	0.88[EUR][1000 genomes]
rs58562874	0.95[EUR][1000 genomes]
rs58878734	0.82[EUR][1000 genomes]
rs59541314	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59761692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59964190	0.95[EUR][1000 genomes]
rs60400555	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60612225	0.95[EUR][1000 genomes]
rs60684226	0.95[EUR][1000 genomes]
rs61217744	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441363	1.00[CEU][hapmap]
rs6788738	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs72494864	0.81[ASN][1000 genomes]
rs73023224	0.82[EUR][1000 genomes]
rs73878306	0.86[ASN][1000 genomes]
rs73878307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73878308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73878311	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73878313	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73878321	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73878322	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73878324	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73878325	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73878328	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7625217	0.95[EUR][1000 genomes]
rs896080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834806	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
3	nsv829772	chr3:161047817-161202554	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs873183	C3orf57	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161059800-161089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:161064400-161083000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:161068200-161083200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:161068400-161075800	Weak transcription	Stomach Mucosa	stomach
5	chr3:161068400-161083200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:161068800-161079000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:161069600-161075400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:161070400-161075800	Weak transcription	Esophagus	oesophagus
9	chr3:161071600-161073000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:161071600-161077000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:161072200-161073000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:161072200-161073000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:161072200-161073200	Enhancers	Liver	Liver

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