Variant report

Variant	rs7806138
Chromosome Location	chr7:12340669-12340670
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1011811	0.82[EUR][1000 genomes]
rs1011812	0.82[EUR][1000 genomes]
rs10235534	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10236623	0.86[CEU][hapmap]
rs10240630	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10248602	0.96[ASN][1000 genomes]
rs10269851	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10282726	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1030031	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10434998	0.85[ASN][1000 genomes]
rs1059002	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12539290	0.93[ASN][1000 genomes]
rs12673036	0.80[CHD][hapmap]
rs1440030	0.88[CEU][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1440031	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1440032	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1440036	0.88[CEU][hapmap]
rs1861310	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1861311	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2024439	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2024440	0.82[EUR][1000 genomes]
rs2024441	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2098365	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2110803	0.88[CEU][hapmap];0.82[MEX][hapmap];0.82[EUR][1000 genomes]
rs2160270	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2192828	0.88[CEU][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2192833	0.95[ASN][1000 genomes]
rs2216046	0.84[ASN][1000 genomes]
rs2287068	0.81[EUR][1000 genomes]
rs2356163	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2356166	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2356168	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2356170	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34130399	0.82[ASN][1000 genomes]
rs3735180	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3815525	0.82[EUR][1000 genomes]
rs3815527	0.82[EUR][1000 genomes]
rs3815528	0.88[CEU][hapmap];0.87[MEX][hapmap];0.82[EUR][1000 genomes]
rs3815529	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3815530	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3815531	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3815534	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4301352	0.84[ASN][1000 genomes]
rs4532495	0.91[CEU][hapmap]
rs4554369	0.84[ASN][1000 genomes]
rs4721083	0.96[ASN][1000 genomes]
rs4721085	0.81[EUR][1000 genomes]
rs58650349	0.95[ASN][1000 genomes]
rs61651459	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6460928	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6460929	0.88[CEU][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6460932	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6943503	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6947878	0.81[ASN][1000 genomes]
rs6954265	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6954555	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6972134	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6973401	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7780547	0.82[EUR][1000 genomes]
rs7796249	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7806645	0.95[ASN][1000 genomes]
rs7808500	0.84[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7806138	VWDE	cis	lung	GTEx
rs7806138	VWDE	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12336200-12342400	Weak transcription	HMEC	breast
2	chr7:12337600-12342400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:12338000-12342200	Weak transcription	NHEK	skin
4	chr7:12338400-12359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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