Variant report

Variant	rs1781670
Chromosome Location	chr13:37687221-37687222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1009963	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11147624	0.92[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs11147625	0.92[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs11147626	0.92[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs11147627	0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.82[MKK][hapmap];0.94[ASN][1000 genomes]
rs11147628	0.87[EUR][1000 genomes]
rs11147629	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11147630	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11147632	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620134	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1199996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12583685	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584417	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585998	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336754	0.91[EUR][1000 genomes]
rs1336762	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764480	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1781669	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856028	0.80[CEU][hapmap];0.82[CHD][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs1856029	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1937756	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1937757	0.89[EUR][1000 genomes]
rs1937758	0.83[EUR][1000 genomes]
rs2078022	0.86[JPT][hapmap]
rs2243710	0.86[JPT][hapmap]
rs2323396	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2670061	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2997194	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3818380	0.86[JPT][hapmap]
rs3852618	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs3852619	0.89[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs3852620	0.94[ASN][1000 genomes]
rs3864999	0.92[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs3888918	0.96[ASN][1000 genomes]
rs3904094	0.86[EUR][1000 genomes]
rs3904095	0.93[ASN][1000 genomes]
rs3904755	0.94[ASN][1000 genomes]
rs3914300	0.94[ASN][1000 genomes]
rs4054546	0.86[CHB][hapmap];0.80[JPT][hapmap];0.94[ASN][1000 genomes]
rs4485226	0.94[ASN][1000 genomes]
rs4943438	0.86[JPT][hapmap]
rs4943439	0.86[JPT][hapmap]
rs4943440	0.86[JPT][hapmap]
rs4943444	0.83[EUR][1000 genomes]
rs4943445	0.93[CHD][hapmap]
rs57671308	0.85[EUR][1000 genomes]
rs58229785	0.86[EUR][1000 genomes]
rs6563510	0.91[ASN][1000 genomes]
rs6563511	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7327617	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334447	0.83[EUR][1000 genomes]
rs7335490	0.91[EUR][1000 genomes]
rs7981360	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7996099	0.87[EUR][1000 genomes]
rs7996290	0.92[EUR][1000 genomes]
rs7996605	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7996662	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8000946	0.86[JPT][hapmap]
rs8002580	0.94[ASN][1000 genomes]
rs8003010	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs945632	0.82[CHD][hapmap];0.81[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs954370	0.86[JPT][hapmap]
rs9547711	0.86[JPT][hapmap]
rs9547713	0.86[JPT][hapmap]
rs9566176	0.87[EUR][1000 genomes]
rs9566177	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs9566178	0.92[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs9566181	0.86[EUR][1000 genomes]
rs9566182	0.86[EUR][1000 genomes]
rs9566183	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566184	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566185	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566186	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566187	0.82[EUR][1000 genomes]
rs9576151	0.86[JPT][hapmap]
rs9576167	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs9576171	0.81[EUR][1000 genomes]
rs9576172	0.87[EUR][1000 genomes]
rs9576173	0.87[EUR][1000 genomes]
rs9576175	0.94[ASN][1000 genomes]
rs9576176	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs9576177	0.83[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs9576178	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs9576180	0.92[ASN][1000 genomes]
rs9576181	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs9576182	0.94[ASN][1000 genomes]
rs9576183	0.94[ASN][1000 genomes]
rs9576184	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576185	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9576186	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576187	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576188	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9576189	0.86[EUR][1000 genomes]
rs9576190	0.85[EUR][1000 genomes]
rs9603126	0.86[JPT][hapmap]
rs9603139	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1781670	N4BP2L2	cis	parietal	SCAN
rs1781670	ALG5	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37683800-37701400	Weak transcription	Gastric	stomach
2	chr13:37684200-37690200	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr13:37685200-37692400	Weak transcription	Fetal Lung	lung
4	chr13:37686800-37687400	Enhancers	Colon Smooth Muscle	Colon

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