Variant report

Variant	rs283795
Chromosome Location	chr15:76774243-76774244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10851888	0.82[CHB][hapmap]
rs11072591	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11072597	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11072598	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11072599	0.82[AMR][1000 genomes]
rs11072610	0.82[CHB][hapmap]
rs11072612	0.82[CHB][hapmap]
rs11629888	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11632222	0.82[ASN][1000 genomes]
rs11632670	0.83[CHB][hapmap]
rs11634019	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs11635463	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11637096	0.86[CHB][hapmap]
rs11637490	0.92[ASN][1000 genomes]
rs11638767	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11856717	0.83[CHB][hapmap]
rs11857015	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11857327	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12437981	0.82[CHB][hapmap]
rs12440965	0.82[CHB][hapmap]
rs12591100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12900179	0.83[ASN][1000 genomes]
rs12904417	0.82[CHB][hapmap]
rs12906143	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12909656	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs157760	0.81[YRI][hapmap]
rs157783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1587381	0.81[AMR][1000 genomes]
rs1607015	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1607017	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1965492	0.82[AMR][1000 genomes]
rs2047504	0.83[CHB][hapmap]
rs2048856	0.88[ASN][1000 genomes]
rs206205	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280306	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2404734	0.83[CHB][hapmap]
rs2436994	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2454450	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2454451	0.83[CHB][hapmap]
rs2454454	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2459361	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2461870	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2461871	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2461872	0.85[CHB][hapmap]
rs2468130	0.86[ASN][1000 genomes]
rs2468131	0.88[ASN][1000 genomes]
rs2469249	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs283789	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs283793	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs284891	0.92[ASN][1000 genomes]
rs284892	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284898	0.81[YRI][hapmap]
rs284899	0.87[ASN][1000 genomes]
rs284903	0.81[YRI][hapmap]
rs284904	0.81[YRI][hapmap]
rs284907	0.81[YRI][hapmap]
rs284909	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2944378	0.92[ASN][1000 genomes]
rs2957614	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3765115	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs437131	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4886488	0.81[JPT][hapmap]
rs4886489	0.81[CHB][hapmap]
rs4886493	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4886495	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4886794	0.82[CHB][hapmap]
rs4886798	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4886800	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4886805	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4886816	0.81[CHB][hapmap]
rs4886819	0.83[CHB][hapmap]
rs62028406	0.83[ASN][1000 genomes]
rs62028423	0.90[ASN][1000 genomes]
rs62028434	0.92[ASN][1000 genomes]
rs7181506	0.82[CHB][hapmap]
rs744336	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8029283	0.81[CHB][hapmap]
rs8037847	0.82[CHB][hapmap]
rs908817	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs965818	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs283795	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs283795	SCAPER	cis	Adipose Subcutaneous	GTEx
rs283795	SCAPER	cis	Whole Blood	GTEx
rs283795	RP11-685G9.2	cis	Whole Blood	GTEx
rs283795	SCAPER	cis	Esophagus Muscularis	GTEx
rs283795	SCAPER	cis	Thyroid	GTEx
rs283795	SCAPER	cis	lung	GTEx
rs283795	ISL2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76725800-76812600	Weak transcription	Left Ventricle	heart
2	chr15:76763000-76795000	Weak transcription	Primary B cells from cord blood	blood
3	chr15:76763600-76775200	Weak transcription	Liver	Liver

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