Variant report

Variant	rs6949562
Chromosome Location	chr7:12299586-12299587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12297657..12300131-chr7:12305646..12308026,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10215270	0.88[JPT][hapmap]
rs10228123	1.00[JPT][hapmap]
rs10231277	0.84[ASN][1000 genomes]
rs10231484	0.84[ASN][1000 genomes]
rs10231577	0.83[ASN][1000 genomes]
rs10233442	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10236246	0.83[ASN][1000 genomes]
rs10237559	0.85[ASN][1000 genomes]
rs10239248	0.82[ASN][1000 genomes]
rs10253377	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256397	0.88[JPT][hapmap]
rs10259305	0.88[JPT][hapmap]
rs10259332	0.82[ASN][1000 genomes]
rs10260491	0.84[ASN][1000 genomes]
rs10262667	0.88[JPT][hapmap]
rs10263810	0.86[ASN][1000 genomes]
rs10268302	0.88[JPT][hapmap]
rs10273672	0.82[ASN][1000 genomes]
rs10273729	0.82[ASN][1000 genomes]
rs10277566	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1079506	0.88[JPT][hapmap]
rs11973540	0.82[ASN][1000 genomes]
rs11977828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12699342	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12699350	0.98[ASN][1000 genomes]
rs13228820	0.87[EUR][1000 genomes]
rs2192840	0.82[ASN][1000 genomes]
rs2216048	0.81[ASN][1000 genomes]
rs28451976	0.82[ASN][1000 genomes]
rs28572024	0.84[ASN][1000 genomes]
rs28608715	0.82[ASN][1000 genomes]
rs28657943	0.84[ASN][1000 genomes]
rs2883841	0.88[ASN][1000 genomes]
rs2883842	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34184688	0.87[EUR][1000 genomes]
rs3919542	0.81[ASN][1000 genomes]
rs3919543	0.81[ASN][1000 genomes]
rs4141568	0.82[ASN][1000 genomes]
rs4141569	0.82[ASN][1000 genomes]
rs4446631	0.83[ASN][1000 genomes]
rs4446632	0.83[ASN][1000 genomes]
rs4496864	0.83[ASN][1000 genomes]
rs4574747	0.83[ASN][1000 genomes]
rs57694022	0.84[ASN][1000 genomes]
rs61054154	0.84[ASN][1000 genomes]
rs66601708	0.84[ASN][1000 genomes]
rs67593601	0.84[ASN][1000 genomes]
rs6945245	0.81[ASN][1000 genomes]
rs6945381	0.99[ASN][1000 genomes]
rs6948515	0.93[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6952078	0.93[ASN][1000 genomes]
rs6969447	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6972805	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6976341	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72584561	0.84[ASN][1000 genomes]
rs72584562	0.84[ASN][1000 genomes]
rs72584563	0.83[ASN][1000 genomes]
rs72584564	0.84[ASN][1000 genomes]
rs72584567	0.84[ASN][1000 genomes]
rs72584570	0.84[ASN][1000 genomes]
rs72584572	0.84[ASN][1000 genomes]
rs72584573	0.84[ASN][1000 genomes]
rs72584575	0.84[ASN][1000 genomes]
rs72584577	0.84[ASN][1000 genomes]
rs7776877	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780582	0.94[ASN][1000 genomes]
rs7788409	0.91[ASN][1000 genomes]
rs7795892	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800823	0.88[JPT][hapmap]
rs7808979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9768750	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9768757	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1033704	chr7:12286225-12355773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6949562	VWDE	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12297800-12299800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr7:12298200-12300400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:12299000-12301600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:12299400-12299600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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