Variant report

Variant	rs2192839
Chromosome Location	chr7:12326930-12326931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12326033..12327864-chr7:12530775..12532531,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1011811	0.82[ASN][1000 genomes]
rs1011812	0.82[ASN][1000 genomes]
rs10231252	0.92[ASN][1000 genomes]
rs10235534	0.93[ASN][1000 genomes]
rs10240630	0.82[ASN][1000 genomes]
rs10269851	0.82[ASN][1000 genomes]
rs10272105	0.93[ASN][1000 genomes]
rs10279958	0.93[ASN][1000 genomes]
rs1030031	0.95[ASN][1000 genomes]
rs1059002	0.82[ASN][1000 genomes]
rs1116972	0.94[ASN][1000 genomes]
rs1155631	0.85[EUR][1000 genomes]
rs1440030	0.88[CHD][hapmap];0.80[JPT][hapmap]
rs1440031	0.80[JPT][hapmap]
rs1440032	0.80[JPT][hapmap]
rs1861310	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2024439	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2024440	0.82[ASN][1000 genomes]
rs2024441	0.94[ASN][1000 genomes]
rs2098365	0.95[ASN][1000 genomes]
rs2110803	0.91[CHD][hapmap];0.80[JPT][hapmap]
rs2160270	0.82[ASN][1000 genomes]
rs2192828	0.90[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2192836	0.94[ASN][1000 genomes]
rs2287068	0.82[ASN][1000 genomes]
rs2356162	0.85[EUR][1000 genomes]
rs2356163	0.95[ASN][1000 genomes]
rs2356166	0.95[ASN][1000 genomes]
rs2356168	0.92[ASN][1000 genomes]
rs2356170	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs3735180	0.80[ASN][1000 genomes]
rs3815525	0.82[ASN][1000 genomes]
rs3815527	0.82[ASN][1000 genomes]
rs3815528	0.90[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs3815529	0.82[ASN][1000 genomes]
rs3815530	0.82[ASN][1000 genomes]
rs3815531	0.82[ASN][1000 genomes]
rs3815534	0.82[ASN][1000 genomes]
rs4236269	0.85[EUR][1000 genomes]
rs4721071	0.85[EUR][1000 genomes]
rs4721072	0.85[EUR][1000 genomes]
rs4721073	0.85[EUR][1000 genomes]
rs4721074	0.85[EUR][1000 genomes]
rs4721075	0.85[EUR][1000 genomes]
rs4721077	0.85[EUR][1000 genomes]
rs4721084	0.94[ASN][1000 genomes]
rs4721085	0.89[ASN][1000 genomes]
rs61651459	0.82[ASN][1000 genomes]
rs6460910	0.84[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs6460911	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6460914	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460915	0.85[EUR][1000 genomes]
rs6460916	0.85[EUR][1000 genomes]
rs6460917	0.86[EUR][1000 genomes]
rs6460928	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs6460929	0.91[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6943503	0.94[ASN][1000 genomes]
rs6945190	0.94[ASN][1000 genomes]
rs6954265	0.82[ASN][1000 genomes]
rs6954555	0.82[ASN][1000 genomes]
rs6956206	0.85[EUR][1000 genomes]
rs6962294	0.85[EUR][1000 genomes]
rs6967385	0.86[CHD][hapmap]
rs6972134	0.82[JPT][hapmap]
rs6973401	0.81[ASN][1000 genomes]
rs717236	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7780547	0.82[ASN][1000 genomes]
rs7790790	0.95[ASN][1000 genomes]
rs7796249	0.82[ASN][1000 genomes]
rs7811925	0.92[ASN][1000 genomes]
rs918016	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs918019	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs984602	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1019021	chr7:12310445-12375516	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv887630	chr7:12323757-12400837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2192839	VWDE	cis	lung	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12317800-12329400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:12326800-12327800	Enhancers	Brain Germinal Matrix	brain

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