Variant report

Variant	rs8040187
Chromosome Location	chr15:40810720-40810721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40808410..40810969-chr15:40987366..40988958,2	K562	blood:
2	chr15:40808415..40811294-chr15:41047376..41049164,2	K562	blood:

Variant related genes	Relation type
ENSG00000051180	Chromatin interaction
ENSG00000137824	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10444792	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10518696	1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10851397	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11070276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11070278	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11632319	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12442697	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12916218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1453182	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs1530942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1530943	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16970734	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16970854	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1801320	1.00[CEU][hapmap]
rs1869303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1987795	0.85[AMR][1000 genomes]
rs2014367	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2034653	0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2084941	0.85[EUR][1000 genomes]
rs2278887	0.86[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap]
rs2278889	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2290379	0.91[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2304579	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap]
rs2412528	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412530	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2412533	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2924389	0.91[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2959535	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2959547	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3803354	1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4467046	0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4561439	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4923873	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4923877	1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4923878	1.00[CEU][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4923879	1.00[CEU][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4924473	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924474	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924476	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924482	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924483	1.00[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57140606	0.89[EUR][1000 genomes]
rs57736474	0.87[EUR][1000 genomes]
rs582736	0.87[CEU][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs589650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs607118	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs611933	0.86[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs617031	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs623187	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs624486	0.87[CEU][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs640919	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6492952	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6492953	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6492955	1.00[CEU][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs651131	0.84[EUR][1000 genomes]
rs667623	0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs7163648	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7163889	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7164056	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7164166	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7164405	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7167239	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7167922	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7168913	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7168927	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7169872	0.81[EUR][1000 genomes]
rs7170073	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7170327	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7170946	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73396510	0.87[EUR][1000 genomes]
rs73396515	0.87[EUR][1000 genomes]
rs8024579	1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8024802	1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8026605	0.83[YRI][hapmap]
rs8029208	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8032453	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8033739	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8034726	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8038350	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8041816	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8041991	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8043197	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs896797	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs921624	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9284288	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs976402	0.91[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9783737	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8040187	C15orf57	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40804400-40812200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:40804400-40812200	Weak transcription	Pancreas	Pancrea
3	chr15:40804400-40821000	Weak transcription	Right Atrium	heart
4	chr15:40805000-40812200	Weak transcription	HMEC	breast
5	chr15:40805200-40812200	Weak transcription	Fetal Stomach	stomach
6	chr15:40805200-40828200	Weak transcription	Placenta	Placenta
7	chr15:40805200-40833000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:40806200-40812200	Weak transcription	K562	blood
9	chr15:40809800-40812000	Weak transcription	Adipose Nuclei	Adipose
10	chr15:40810200-40812000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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