Variant report

Variant	rs6996275
Chromosome Location	chr8:120415378-120415379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10505355	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505356	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505357	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505359	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505361	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505362	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10575	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057732	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11526	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11775043	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775209	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778277	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778491	0.80[EUR][1000 genomes]
rs11779998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780146	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780200	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780243	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781723	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782103	0.80[EUR][1000 genomes]
rs11782222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782840	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783703	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784242	0.80[EUR][1000 genomes]
rs11785549	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786524	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786573	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786577	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381333	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381334	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381335	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14324	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461693	0.80[EUR][1000 genomes]
rs1461696	0.80[EUR][1000 genomes]
rs1551784	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551785	1.00[ASN][1000 genomes]
rs1599473	0.84[MEX][hapmap];0.82[TSI][hapmap]
rs1599476	1.00[ASN][1000 genomes]
rs16892511	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892552	0.83[EUR][1000 genomes]
rs17187482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187655	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188194	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188373	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189020	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790807	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17791334	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792124	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792171	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17793097	1.00[ASN][1000 genomes]
rs2071518	0.84[MEX][hapmap]
rs2071519	0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs2447153	1.00[ASN][1000 genomes]
rs2447155	1.00[ASN][1000 genomes]
rs2447157	1.00[ASN][1000 genomes]
rs2447158	1.00[ASN][1000 genomes]
rs2447159	1.00[ASN][1000 genomes]
rs2447160	1.00[ASN][1000 genomes]
rs2447163	1.00[ASN][1000 genomes]
rs2447164	1.00[ASN][1000 genomes]
rs2447165	1.00[ASN][1000 genomes]
rs2447167	1.00[ASN][1000 genomes]
rs2447168	1.00[ASN][1000 genomes]
rs2447169	1.00[ASN][1000 genomes]
rs2447170	1.00[ASN][1000 genomes]
rs2447171	1.00[ASN][1000 genomes]
rs2447172	1.00[ASN][1000 genomes]
rs2447173	1.00[ASN][1000 genomes]
rs2447174	1.00[ASN][1000 genomes]
rs2447176	1.00[ASN][1000 genomes]
rs2447177	1.00[ASN][1000 genomes]
rs2447178	1.00[ASN][1000 genomes]
rs2447179	1.00[ASN][1000 genomes]
rs2447180	1.00[ASN][1000 genomes]
rs2447181	1.00[ASN][1000 genomes]
rs2447182	1.00[ASN][1000 genomes]
rs2447183	1.00[ASN][1000 genomes]
rs2469996	1.00[ASN][1000 genomes]
rs2469997	1.00[ASN][1000 genomes]
rs2469998	1.00[ASN][1000 genomes]
rs2469999	1.00[ASN][1000 genomes]
rs2470001	1.00[ASN][1000 genomes]
rs2470002	1.00[ASN][1000 genomes]
rs2470003	1.00[ASN][1000 genomes]
rs2470004	1.00[ASN][1000 genomes]
rs2470005	1.00[ASN][1000 genomes]
rs2470006	1.00[ASN][1000 genomes]
rs2470007	1.00[ASN][1000 genomes]
rs2470010	1.00[ASN][1000 genomes]
rs2470011	1.00[ASN][1000 genomes]
rs2470012	1.00[ASN][1000 genomes]
rs2470013	1.00[ASN][1000 genomes]
rs2470014	1.00[ASN][1000 genomes]
rs2470015	1.00[ASN][1000 genomes]
rs2470016	1.00[ASN][1000 genomes]
rs2470017	1.00[ASN][1000 genomes]
rs2470018	1.00[ASN][1000 genomes]
rs2470021	1.00[ASN][1000 genomes]
rs2470023	1.00[ASN][1000 genomes]
rs2470024	1.00[ASN][1000 genomes]
rs2470025	1.00[ASN][1000 genomes]
rs2470026	1.00[ASN][1000 genomes]
rs2470028	1.00[ASN][1000 genomes]
rs2470030	1.00[ASN][1000 genomes]
rs2470031	1.00[ASN][1000 genomes]
rs2470032	1.00[ASN][1000 genomes]
rs2470033	1.00[ASN][1000 genomes]
rs2470034	1.00[ASN][1000 genomes]
rs2470035	1.00[ASN][1000 genomes]
rs2470040	1.00[ASN][1000 genomes]
rs2957356	1.00[ASN][1000 genomes]
rs2957357	1.00[ASN][1000 genomes]
rs3110337	1.00[ASN][1000 genomes]
rs34112166	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928531	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4123837	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019665	1.00[ASN][1000 genomes]
rs55883962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56013326	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56736221	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56774448	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56782665	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56860849	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57333327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57534632	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57788046	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210708	0.83[EUR][1000 genomes]
rs58486051	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58576806	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58619390	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58659618	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58936256	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59780141	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60859300	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60978064	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61064779	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61100635	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012790	0.80[EUR][1000 genomes]
rs7017173	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722783	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7341594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709783	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711267	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713572	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713574	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73713589	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746642	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815177	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815390	1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816205	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828460	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832471	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834463	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834596	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6996275	NOV	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120413800-120428000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:120414400-120416400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:120414400-120428000	Weak transcription	Aorta	Aorta
4	chr8:120415000-120415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:120415000-120415400	Enhancers	NHDF-Ad	bronchial
6	chr8:120415000-120415600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:120415000-120416200	Enhancers	Osteobl	bone
8	chr8:120415000-120416400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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