Variant report

Variant	rs2602930
Chromosome Location	chr1:77740787-77740788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11162292	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11162293	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11162295	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1167207	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1167217	0.85[CEU][hapmap]
rs1167218	0.92[ASN][1000 genomes]
rs1253220	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1253221	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1463324	0.86[CEU][hapmap]
rs1721161	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1851736	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1988302	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602934	0.82[CEU][hapmap]
rs2602943	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs2602945	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2602946	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2602948	1.00[CEU][hapmap];1.00[LWK][hapmap];0.86[EUR][1000 genomes]
rs2602951	0.82[CEU][hapmap]
rs2602952	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689676	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2689683	1.00[CEU][hapmap];1.00[LWK][hapmap];0.86[EUR][1000 genomes]
rs2799550	0.81[EUR][1000 genomes]
rs2799554	0.83[EUR][1000 genomes]
rs2799555	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2799556	0.83[EUR][1000 genomes]
rs2799558	0.83[EUR][1000 genomes]
rs2799559	0.83[EUR][1000 genomes]
rs2799560	0.83[EUR][1000 genomes]
rs2799561	0.83[EUR][1000 genomes]
rs2799562	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2799563	0.85[CEU][hapmap]
rs2815309	0.86[EUR][1000 genomes]
rs2815310	0.86[EUR][1000 genomes]
rs2815311	0.86[EUR][1000 genomes]
rs2815314	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2815317	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2815319	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2815324	0.86[CEU][hapmap]
rs2815325	0.86[CEU][hapmap]
rs2815326	0.86[CEU][hapmap]
rs2815332	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949783	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6662853	0.86[CEU][hapmap]
rs7531411	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432398	chr1:77707391-77740836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77737200-77747400	Weak transcription	Aorta	Aorta
2	chr1:77738400-77746600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:77738800-77741600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77739800-77740800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:77740200-77746800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:77740600-77741400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:77740600-77742800	Weak transcription	NHDF-Ad	bronchial

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