Variant report

Variant	rs2191483
Chromosome Location	chr7:84785117-84785118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84783738..84785912-chr7:84791930..84794783,2	K562	blood:
2	chr7:84783479..84785634-chr7:84790820..84792912,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1003292	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1003293	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1016181	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1019204	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808059	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978933	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12669993	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12704114	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1465289	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1473150	0.94[EUR][1000 genomes]
rs1473151	0.94[EUR][1000 genomes]
rs17648274	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2011449	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2159574	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159580	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2191489	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2372671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429689	0.86[EUR][1000 genomes]
rs2534855	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2534856	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2534857	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2534858	0.88[EUR][1000 genomes]
rs2534861	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2534862	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2534863	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2534864	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2534868	0.96[CEU][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2534870	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2534871	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2534874	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2732747	0.87[EUR][1000 genomes]
rs2732748	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2732750	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2732752	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2732759	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2732760	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2732761	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2732763	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4727099	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718413	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7777999	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7779964	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7780423	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7798514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976479	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs976480	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs976481	0.83[AMR][1000 genomes];0.93[EUR][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	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034620	chr7:84701267-84791576	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv519125	chr7:84704447-84795710	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv888645	chr7:84738495-84842884	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv888646	chr7:84754151-84905855	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv464621	chr7:84769653-84795710	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv607715	chr7:84769653-84795710	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84783000-84792000	Weak transcription	Fetal Lung	lung
2	chr7:84784000-84788000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:84784000-84789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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