Variant report

Variant	rs1494453
Chromosome Location	chr7:146397188-146397189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10249351	0.85[JPT][hapmap]
rs1072972	0.85[JPT][hapmap]
rs1072973	0.90[JPT][hapmap]
rs10808040	1.00[YRI][hapmap]
rs10952649	0.94[JPT][hapmap]
rs10952650	0.83[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs10952658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12530645	0.94[JPT][hapmap]
rs12537000	0.81[YRI][hapmap]
rs12669096	0.95[JPT][hapmap]
rs12703831	0.82[YRI][hapmap]
rs1389783	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs1494452	0.83[JPT][hapmap]
rs1494458	0.85[JPT][hapmap]
rs1587048	0.84[JPT][hapmap]
rs1587049	0.85[JPT][hapmap]
rs2109280	0.89[JPT][hapmap]
rs2131932	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[ASN][1000 genomes]
rs2249085	0.85[JPT][hapmap]
rs2372762	0.85[JPT][hapmap]
rs2372763	0.82[JPT][hapmap]
rs2533082	0.82[JPT][hapmap]
rs2533084	0.85[JPT][hapmap]
rs2533109	0.85[JPT][hapmap]
rs2533120	0.95[ASN][1000 genomes]
rs2533122	0.84[JPT][hapmap]
rs2642483	0.85[JPT][hapmap]
rs2642484	0.85[JPT][hapmap]
rs2642486	0.85[JPT][hapmap]
rs2642487	0.85[JPT][hapmap]
rs2642488	0.85[JPT][hapmap]
rs2642490	0.85[JPT][hapmap]
rs2642495	0.84[JPT][hapmap]
rs2642500	0.84[JPT][hapmap]
rs2642515	0.85[JPT][hapmap]
rs2642516	0.83[JPT][hapmap]
rs2888408	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs2907673	0.85[JPT][hapmap]
rs344457	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6945453	0.85[JPT][hapmap]
rs6954014	0.84[JPT][hapmap]
rs6959595	0.85[JPT][hapmap]
rs6972322	0.95[JPT][hapmap]
rs717171	0.85[JPT][hapmap]
rs740808	0.84[JPT][hapmap]
rs7797256	0.90[JPT][hapmap]
rs7802801	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021967	chr7:146199590-146413808	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1015996	chr7:146202073-146419347	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv934014	chr7:146212698-146400508	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1022547	chr7:146226298-146624409	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv996300	chr7:146236230-146663300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1018605	chr7:146287876-146448400	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv889392	chr7:146292088-146446767	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027561	chr7:146308783-146762872	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv608939	chr7:146332953-146464965	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1021923	chr7:146344105-146442062	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1021542	chr7:146344105-146564397	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv817275	chr7:146346102-146475758	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv2761379	chr7:146347722-146448412	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv531439	chr7:146349600-146467532	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv889393	chr7:146353619-146428215	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv889394	chr7:146364177-146464965	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv608940	chr7:146367793-146660924	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv932964	chr7:146380022-146451013	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1024692	chr7:146382761-146415878	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1031695	chr7:146383427-146503119	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv470397	chr7:146389259-146420571	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1494453	FAM115A	cis	parietal	SCAN
rs1494453	OR6B1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146396200-146398000	Weak transcription	Fetal Lung	lung

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