Variant report

Variant	rs8040716
Chromosome Location	chr15:49774425-49774426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10048065	0.83[EUR][1000 genomes]
rs1023683	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10519221	1.00[ASN][1000 genomes]
rs10519226	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10519233	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11070707	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs11630318	1.00[ASN][1000 genomes]
rs11632038	1.00[ASN][1000 genomes]
rs11632303	1.00[ASN][1000 genomes]
rs11632575	1.00[ASN][1000 genomes]
rs11633282	1.00[ASN][1000 genomes]
rs11634636	1.00[ASN][1000 genomes]
rs11635005	1.00[ASN][1000 genomes]
rs11635308	1.00[ASN][1000 genomes]
rs11635354	1.00[ASN][1000 genomes]
rs11638314	1.00[ASN][1000 genomes]
rs11638606	1.00[ASN][1000 genomes]
rs11639423	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12901416	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs12902107	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs12902794	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs13329455	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1354918	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1395900	0.88[EUR][1000 genomes]
rs1546424	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs1546425	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs1588127	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17396119	1.00[ASN][1000 genomes]
rs17396536	1.00[ASN][1000 genomes]
rs17396747	1.00[ASN][1000 genomes]
rs17397211	1.00[ASN][1000 genomes]
rs17400427	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17400916	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402569	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17404262	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17476361	1.00[ASN][1000 genomes]
rs17477722	1.00[ASN][1000 genomes]
rs17478618	1.00[ASN][1000 genomes]
rs17479003	1.00[ASN][1000 genomes]
rs17480434	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17481696	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1814711	0.85[EUR][1000 genomes]
rs2413947	0.89[EUR][1000 genomes]
rs2413958	0.85[EUR][1000 genomes]
rs2413963	0.85[CEU][hapmap]
rs28393768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28408092	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28430272	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465200	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28484276	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492008	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28516445	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28568399	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28635979	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28669217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28671247	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28798135	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28843724	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3210227	0.94[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs35692325	1.00[ASN][1000 genomes]
rs4774539	0.83[CEU][hapmap]
rs57252806	1.00[ASN][1000 genomes]
rs57749497	1.00[ASN][1000 genomes]
rs59112977	1.00[ASN][1000 genomes]
rs60594237	1.00[ASN][1000 genomes]
rs61259878	1.00[ASN][1000 genomes]
rs7162633	1.00[ASN][1000 genomes]
rs7165168	1.00[ASN][1000 genomes]
rs7167474	1.00[ASN][1000 genomes]
rs7167625	0.81[EUR][1000 genomes]
rs7178101	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs73392277	1.00[ASN][1000 genomes]
rs73392288	1.00[ASN][1000 genomes]
rs73394324	1.00[ASN][1000 genomes]
rs73394333	1.00[ASN][1000 genomes]
rs73394339	1.00[ASN][1000 genomes]
rs73394355	1.00[ASN][1000 genomes]
rs73394359	1.00[ASN][1000 genomes]
rs73396235	1.00[ASN][1000 genomes]
rs73396238	1.00[ASN][1000 genomes]
rs73398223	1.00[ASN][1000 genomes]
rs73398243	1.00[ASN][1000 genomes]
rs73398272	1.00[ASN][1000 genomes]
rs73398284	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8027094	1.00[ASN][1000 genomes]
rs8030457	1.00[ASN][1000 genomes]
rs8034473	0.88[EUR][1000 genomes]
rs8038373	0.86[EUR][1000 genomes]
rs8040436	0.85[CEU][hapmap]
rs967892	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs967893	0.85[CEU][hapmap]
rs9920033	1.00[YRI][hapmap]
rs9920574	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9920705	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv9263	chr15:49734435-49809465	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv1043119	chr15:49760222-49844366	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv13246	chr15:49767876-49782252	Genic enhancers Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
5	nsv974651	chr15:49771424-49777183	Genic enhancers Strong transcription Weak transcription	miRNA target site	n/a	inside rSNPs	diseases
6	nsv984069	chr15:49772310-49783159	Strong transcription Weak transcription Genic enhancers Enhancers	lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49764600-49788400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:49764800-49775200	Weak transcription	Osteobl	bone
3	chr15:49765800-49775800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:49765800-49783200	Weak transcription	NHDF-Ad	bronchial
5	chr15:49767600-49775200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:49773000-49775200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:49774200-49775200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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