Variant report

Variant	rs6997943
Chromosome Location	chr8:120463608-120463609
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120453043..120455980-chr8:120462889..120465756,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10505355	0.92[MEX][hapmap];0.82[EUR][1000 genomes]
rs10955927	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776544	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778491	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781027	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781723	0.82[EUR][1000 genomes]
rs11782103	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782995	0.88[EUR][1000 genomes]
rs11784242	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785549	0.84[MEX][hapmap]
rs1381333	0.81[EUR][1000 genomes]
rs1381334	0.81[EUR][1000 genomes]
rs1381335	0.92[MEX][hapmap];0.81[EUR][1000 genomes]
rs1381338	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461691	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461693	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461695	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461696	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1461697	0.98[ASN][1000 genomes]
rs1461698	0.98[ASN][1000 genomes]
rs16892491	0.83[ASN][1000 genomes]
rs16892497	0.83[ASN][1000 genomes]
rs16892511	0.82[EUR][1000 genomes]
rs16892552	0.89[EUR][1000 genomes]
rs16892582	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892586	0.98[ASN][1000 genomes]
rs16892623	0.98[ASN][1000 genomes]
rs16892625	0.98[ASN][1000 genomes]
rs16892628	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16892630	0.98[ASN][1000 genomes]
rs16892631	0.98[ASN][1000 genomes]
rs16892633	0.98[ASN][1000 genomes]
rs16892636	0.98[ASN][1000 genomes]
rs16892639	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892644	0.98[ASN][1000 genomes]
rs16892646	0.98[ASN][1000 genomes]
rs1870779	0.95[ASN][1000 genomes]
rs2071518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2071519	0.86[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs2071526	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2279112	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2326246	0.98[ASN][1000 genomes]
rs34112166	0.84[MEX][hapmap]
rs4123837	0.92[MEX][hapmap];0.81[EUR][1000 genomes]
rs55976504	0.81[ASN][1000 genomes]
rs56768061	0.83[ASN][1000 genomes]
rs56860849	0.82[EUR][1000 genomes]
rs57103042	0.83[ASN][1000 genomes]
rs58210708	0.89[EUR][1000 genomes]
rs58576806	0.82[EUR][1000 genomes]
rs60484498	0.83[ASN][1000 genomes]
rs67665719	0.88[EUR][1000 genomes]
rs6982139	0.98[ASN][1000 genomes]
rs6983056	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983393	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993389	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012790	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015188	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684286	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72684289	0.81[ASN][1000 genomes]
rs72684293	0.83[ASN][1000 genomes]
rs72686305	0.98[ASN][1000 genomes]
rs72686306	0.98[ASN][1000 genomes]
rs72686316	0.81[ASN][1000 genomes]
rs73711267	0.83[EUR][1000 genomes]
rs7815177	0.82[EUR][1000 genomes]
rs7815390	0.82[EUR][1000 genomes]
rs7816205	0.81[MEX][hapmap]
rs7832471	0.82[EUR][1000 genomes]
rs7834596	0.92[MEX][hapmap];0.82[EUR][1000 genomes]
rs7839760	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs922265	0.98[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
rs6997943	NOV	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120458400-120464400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:120460800-120465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:120461200-120464800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:120462400-120464600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:120462600-120464200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:120462800-120464600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:120463200-120465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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