Variant report

Variant	rs7795828
Chromosome Location	chr7:12347689-12347690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1011813	0.92[ASN][1000 genomes]
rs10155958	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10225444	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10232196	0.94[ASN][1000 genomes]
rs10234877	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10248602	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10254029	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10258470	0.91[ASN][1000 genomes]
rs10258717	0.91[ASN][1000 genomes]
rs10259100	0.89[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs10267441	0.85[YRI][hapmap]
rs10272105	0.85[EUR][1000 genomes]
rs10275154	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10278941	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10279958	0.87[EUR][1000 genomes]
rs10280443	0.84[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs10282726	0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10434998	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1116972	0.88[EUR][1000 genomes]
rs1155631	0.92[ASN][1000 genomes]
rs12539290	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12667429	0.81[AFR][1000 genomes]
rs12668545	0.81[AFR][1000 genomes]
rs12673036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17149915	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs17165850	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1861311	1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[ASN][1000 genomes]
rs2053380	0.85[YRI][hapmap]
rs2098364	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2192833	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2192836	0.88[EUR][1000 genomes]
rs2192837	0.98[ASN][1000 genomes]
rs2216046	0.91[ASN][1000 genomes]
rs2253353	0.90[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2356162	0.93[ASN][1000 genomes]
rs2356167	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2883866	0.94[ASN][1000 genomes]
rs34130399	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3815532	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3902479	0.94[ASN][1000 genomes]
rs41459746	0.89[AFR][1000 genomes]
rs4236269	0.93[ASN][1000 genomes]
rs4301352	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4554369	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4719305	0.89[AFR][1000 genomes]
rs4719307	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4721071	0.92[ASN][1000 genomes]
rs4721072	0.93[ASN][1000 genomes]
rs4721073	0.90[ASN][1000 genomes]
rs4721074	0.93[ASN][1000 genomes]
rs4721075	0.93[ASN][1000 genomes]
rs4721077	0.93[ASN][1000 genomes]
rs4721083	0.81[ASN][1000 genomes]
rs55794302	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58650349	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62451462	0.98[ASN][1000 genomes]
rs62451463	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62451483	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6460915	0.93[ASN][1000 genomes]
rs6460916	0.93[ASN][1000 genomes]
rs6460917	0.93[ASN][1000 genomes]
rs6947878	0.96[ASN][1000 genomes]
rs6956206	0.92[ASN][1000 genomes]
rs6962273	0.94[ASN][1000 genomes]
rs6962294	0.93[ASN][1000 genomes]
rs7790370	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7806645	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7808500	0.91[ASN][1000 genomes]
rs7811925	0.87[EUR][1000 genomes]
rs7812164	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs984602	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv1034059	chr7:12342549-12367818	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7795828	VWDE	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12338400-12359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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