Variant report

Variant	rs7996290
Chromosome Location	chr13:37674763-37674764
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1009963	0.90[EUR][1000 genomes]
rs11147624	0.82[CHD][hapmap]
rs11147625	0.82[CHD][hapmap]
rs11147626	0.82[CHD][hapmap]
rs11147627	0.88[ASW][hapmap];0.82[CHD][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs11147628	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11147629	0.87[EUR][1000 genomes]
rs11147630	0.87[EUR][1000 genomes]
rs11147632	0.87[EUR][1000 genomes]
rs11620134	0.87[EUR][1000 genomes]
rs1199995	0.91[EUR][1000 genomes]
rs1199996	0.91[EUR][1000 genomes]
rs12583685	0.87[EUR][1000 genomes]
rs12584417	0.87[EUR][1000 genomes]
rs12585998	0.87[EUR][1000 genomes]
rs1336754	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1336762	0.87[EUR][1000 genomes]
rs1764480	0.92[EUR][1000 genomes]
rs1781669	0.92[EUR][1000 genomes]
rs1781670	0.92[EUR][1000 genomes]
rs1856028	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1856029	0.89[EUR][1000 genomes]
rs1937756	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937757	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1937758	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2997194	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904094	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57671308	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58229785	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563511	0.86[EUR][1000 genomes]
rs7327617	0.87[EUR][1000 genomes]
rs7334447	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7335490	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981360	0.86[EUR][1000 genomes]
rs7996099	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7996605	0.86[EUR][1000 genomes]
rs7996662	0.86[EUR][1000 genomes]
rs8002580	0.92[AFR][1000 genomes]
rs8003010	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs945632	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566176	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566178	0.82[CHD][hapmap]
rs9566181	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9566182	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9566183	0.86[EUR][1000 genomes]
rs9566184	0.86[EUR][1000 genomes]
rs9566185	0.86[EUR][1000 genomes]
rs9566186	0.86[EUR][1000 genomes]
rs9566187	0.89[ASN][1000 genomes]
rs9576171	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576172	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576173	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576184	0.87[EUR][1000 genomes]
rs9576185	0.86[EUR][1000 genomes]
rs9576186	0.86[EUR][1000 genomes]
rs9576187	0.86[EUR][1000 genomes]
rs9576188	0.86[EUR][1000 genomes]
rs9576189	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576190	0.81[EUR][1000 genomes];0.90[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
rs7996290	N4BP2L2	cis	parietal	SCAN
rs7996290	EXOSC8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37665400-37678400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:37673600-37677600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr13:37673600-37680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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