Variant report

Variant	rs2071519
Chromosome Location	chr8:120435908-120435909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10505355	0.83[ASW][hapmap];0.85[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10505356	0.85[EUR][1000 genomes]
rs10505357	0.85[EUR][1000 genomes]
rs10505358	0.97[ASN][1000 genomes]
rs10505359	0.85[EUR][1000 genomes]
rs10505361	0.83[EUR][1000 genomes]
rs10505362	0.83[EUR][1000 genomes]
rs10575	0.85[EUR][1000 genomes]
rs1057732	0.85[EUR][1000 genomes]
rs10955927	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11526	0.85[EUR][1000 genomes]
rs11775043	0.85[EUR][1000 genomes]
rs11775209	0.83[EUR][1000 genomes]
rs11776544	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11778277	0.83[EUR][1000 genomes]
rs11778491	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11779998	0.84[EUR][1000 genomes]
rs11780146	0.84[EUR][1000 genomes]
rs11780200	0.83[EUR][1000 genomes]
rs11780243	0.84[EUR][1000 genomes]
rs11781027	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11781723	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11782103	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11782222	0.82[EUR][1000 genomes]
rs11782840	0.85[EUR][1000 genomes]
rs11782995	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11783464	0.83[EUR][1000 genomes]
rs11783703	0.85[EUR][1000 genomes]
rs11784242	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11785549	0.91[MEX][hapmap];0.85[EUR][1000 genomes]
rs11786524	0.83[EUR][1000 genomes]
rs11786573	0.83[EUR][1000 genomes]
rs11786577	0.83[EUR][1000 genomes]
rs1381333	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1381334	0.85[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1381335	0.83[ASW][hapmap];0.85[CEU][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1381338	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs14324	0.85[EUR][1000 genomes]
rs1461690	0.85[EUR][1000 genomes]
rs1461691	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1461692	0.94[ASN][1000 genomes]
rs1461693	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1461695	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1461696	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1551784	0.83[EUR][1000 genomes]
rs16892511	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16892552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892553	0.97[ASN][1000 genomes]
rs16892556	0.97[ASN][1000 genomes]
rs16892582	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16892628	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16892639	0.89[EUR][1000 genomes]
rs17187482	0.85[EUR][1000 genomes]
rs17187503	0.85[EUR][1000 genomes]
rs17187655	0.85[EUR][1000 genomes]
rs17188194	0.85[EUR][1000 genomes]
rs17188373	0.85[EUR][1000 genomes]
rs17189020	0.83[EUR][1000 genomes]
rs17790807	0.84[EUR][1000 genomes]
rs17791184	0.84[EUR][1000 genomes]
rs17791334	0.85[EUR][1000 genomes]
rs17792124	0.83[EUR][1000 genomes]
rs17792171	0.83[EUR][1000 genomes]
rs2071518	0.86[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap]
rs2071526	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2100836	0.88[ASN][1000 genomes]
rs2279112	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34112166	0.91[MEX][hapmap];0.82[EUR][1000 genomes]
rs3928531	0.83[EUR][1000 genomes]
rs4123837	0.83[ASW][hapmap];0.85[CEU][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55883962	0.84[EUR][1000 genomes]
rs56013326	0.85[EUR][1000 genomes]
rs56736221	0.85[EUR][1000 genomes]
rs56774448	0.83[EUR][1000 genomes]
rs56782665	0.85[EUR][1000 genomes]
rs56860849	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57333327	0.83[EUR][1000 genomes]
rs57534632	0.84[EUR][1000 genomes]
rs57788046	0.85[EUR][1000 genomes]
rs58210708	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58486051	0.83[EUR][1000 genomes]
rs58576806	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58619390	0.85[EUR][1000 genomes]
rs58659618	0.84[EUR][1000 genomes]
rs58936256	0.84[EUR][1000 genomes]
rs59780141	0.83[EUR][1000 genomes]
rs60859300	0.84[EUR][1000 genomes]
rs60978064	0.84[EUR][1000 genomes]
rs61064779	0.85[EUR][1000 genomes]
rs61100635	0.84[EUR][1000 genomes]
rs67665719	0.81[EUR][1000 genomes]
rs6983056	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6983393	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6990760	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6993389	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6996275	0.83[EUR][1000 genomes]
rs6997943	0.89[EUR][1000 genomes]
rs7012790	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7014927	0.86[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7015188	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7016011	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7017173	0.83[EUR][1000 genomes]
rs722783	0.82[EUR][1000 genomes]
rs72684286	0.87[EUR][1000 genomes]
rs72684294	0.88[ASN][1000 genomes]
rs72684295	0.88[ASN][1000 genomes]
rs72684297	0.88[ASN][1000 genomes]
rs72684298	0.95[ASN][1000 genomes]
rs72684301	0.97[ASN][1000 genomes]
rs72686314	0.94[ASN][1000 genomes]
rs7341594	0.83[EUR][1000 genomes]
rs73709779	0.82[EUR][1000 genomes]
rs73709783	0.84[EUR][1000 genomes]
rs73711267	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73713572	0.85[EUR][1000 genomes]
rs73713574	0.83[EUR][1000 genomes]
rs73713589	0.82[EUR][1000 genomes]
rs746642	0.83[EUR][1000 genomes]
rs7815177	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7815390	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7816205	0.90[MEX][hapmap];0.85[EUR][1000 genomes]
rs7816347	0.84[EUR][1000 genomes]
rs7828460	0.85[EUR][1000 genomes]
rs7832471	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7834463	0.84[EUR][1000 genomes]
rs7834596	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7839760	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	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
4	nsv527032	chr8:120433976-120449997	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2071519	NOV	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120429600-120436800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:120429600-120437200	Weak transcription	NHLF	lung
3	chr8:120429800-120436800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:120429800-120437000	Weak transcription	Fetal Stomach	stomach
5	chr8:120429800-120437400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:120430600-120437800	Weak transcription	Hela-S3	cervix
7	chr8:120431000-120439600	Weak transcription	NHDF-Ad	bronchial
8	chr8:120432000-120437000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:120432600-120438200	Weak transcription	Fetal Lung	lung
10	chr8:120432800-120437000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:120433000-120438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:120434400-120436000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr8:120435000-120436800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:120435200-120436000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:120435400-120436800	Weak transcription	Aorta	Aorta
16	chr8:120435400-120437000	Weak transcription	Pancreas	Pancrea
17	chr8:120435400-120438400	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:120435600-120438000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:120435800-120436000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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