Variant report

Variant	rs4721073
Chromosome Location	chr7:12328765-12328766
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1011813	0.85[ASN][1000 genomes]
rs10155958	0.86[ASN][1000 genomes]
rs10225444	0.96[ASN][1000 genomes]
rs10232196	0.95[ASN][1000 genomes]
rs10234877	0.89[ASN][1000 genomes]
rs10254029	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10258470	0.99[ASN][1000 genomes]
rs10258717	0.99[ASN][1000 genomes]
rs10259100	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10275154	0.90[ASN][1000 genomes]
rs10278941	0.89[ASN][1000 genomes]
rs10280443	0.80[CHB][hapmap];0.88[CHD][hapmap]
rs10282726	0.81[JPT][hapmap]
rs10434998	0.83[ASN][1000 genomes]
rs1155631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11971213	0.83[AFR][1000 genomes]
rs12216593	0.81[ASN][1000 genomes]
rs12673036	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs17149915	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs17165850	0.86[ASN][1000 genomes]
rs1861311	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2098364	0.86[ASN][1000 genomes]
rs2192837	0.90[ASN][1000 genomes]
rs2192839	0.85[EUR][1000 genomes]
rs2216046	0.83[ASN][1000 genomes]
rs2253353	0.85[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2356162	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356167	0.90[ASN][1000 genomes]
rs2883866	0.96[ASN][1000 genomes]
rs34130399	0.81[ASN][1000 genomes]
rs3815532	0.85[ASN][1000 genomes]
rs3902479	0.96[ASN][1000 genomes]
rs4236269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4301352	0.83[ASN][1000 genomes]
rs4554369	0.83[ASN][1000 genomes]
rs4719307	0.80[CHB][hapmap];0.90[CHD][hapmap]
rs4721071	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4721072	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4721074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4721075	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4721077	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55794302	0.89[ASN][1000 genomes]
rs62451462	0.90[ASN][1000 genomes]
rs62451463	0.90[ASN][1000 genomes]
rs62451483	0.84[ASN][1000 genomes]
rs6460910	0.80[CEU][hapmap]
rs6460911	0.89[EUR][1000 genomes]
rs6460914	0.89[EUR][1000 genomes]
rs6460915	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6460916	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6460917	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6947878	0.94[ASN][1000 genomes]
rs6956206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6962273	0.96[ASN][1000 genomes]
rs6962294	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs717236	0.89[EUR][1000 genomes]
rs72584593	0.83[AFR][1000 genomes]
rs7790370	0.90[ASN][1000 genomes]
rs7795828	0.90[ASN][1000 genomes]
rs7800111	0.83[AFR][1000 genomes]
rs7808500	0.83[ASN][1000 genomes]
rs7812164	0.86[ASN][1000 genomes]
rs918016	0.87[EUR][1000 genomes]
rs918019	0.87[EUR][1000 genomes]
rs984602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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
rs4721073	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	chr7:12328600-12328800	Enhancers	Brain Germinal Matrix	brain

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