Variant report

Variant	rs62272253
Chromosome Location	chr3:160179825-160179826
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	chr3:160177532..160181109-chr3:160181468..160183616,3	K562	blood:
2	chr3:160166633..160169858-chr3:160178085..160180408,4	K562	blood:

Variant related genes	Relation type
ENSG00000213186	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs2275153	0.84[AMR][1000 genomes]
rs2305401	0.84[AMR][1000 genomes]
rs2305406	0.84[AMR][1000 genomes]
rs33999879	0.84[AMR][1000 genomes]
rs3736627	0.84[AMR][1000 genomes]
rs41272959	0.84[AMR][1000 genomes]
rs57030267	0.84[AMR][1000 genomes]
rs57050097	0.84[AMR][1000 genomes]
rs57277659	0.84[AMR][1000 genomes]
rs57285344	0.84[AMR][1000 genomes]
rs57555307	0.84[AMR][1000 genomes]
rs58654032	0.84[AMR][1000 genomes]
rs58915028	0.84[AMR][1000 genomes]
rs59695030	0.84[AMR][1000 genomes]
rs59799252	0.84[AMR][1000 genomes]
rs60066272	0.84[AMR][1000 genomes]
rs60153357	0.84[AMR][1000 genomes]
rs60517889	0.84[AMR][1000 genomes]
rs60914777	0.84[AMR][1000 genomes]
rs61066536	0.84[AMR][1000 genomes]
rs62272168	1.00[AFR][1000 genomes]
rs62272171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62272176	0.84[AMR][1000 genomes]
rs62272179	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62272187	0.84[AMR][1000 genomes]
rs62272188	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62272190	0.84[AMR][1000 genomes]
rs62272191	0.84[AMR][1000 genomes]
rs62272193	0.84[AMR][1000 genomes]
rs62272196	0.84[AMR][1000 genomes]
rs62272198	0.84[AMR][1000 genomes]
rs62272231	0.84[AMR][1000 genomes]
rs62272236	0.84[AMR][1000 genomes]
rs62272237	0.84[AMR][1000 genomes]
rs62272238	1.00[AFR][1000 genomes]
rs62272243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62272245	0.84[AMR][1000 genomes]
rs62272247	0.84[AMR][1000 genomes]
rs62272249	0.84[AMR][1000 genomes]
rs62272251	0.84[AMR][1000 genomes]
rs62272254	0.84[AMR][1000 genomes]
rs62272255	0.84[AMR][1000 genomes]
rs62272256	0.84[AMR][1000 genomes]
rs62272257	0.84[AMR][1000 genomes]
rs62272258	0.84[AMR][1000 genomes]
rs62272259	0.84[AMR][1000 genomes]
rs62272781	0.84[AMR][1000 genomes]
rs62272783	0.84[AMR][1000 genomes]
rs62272785	0.84[AMR][1000 genomes]
rs62272787	0.84[AMR][1000 genomes]
rs62272788	0.84[AMR][1000 genomes]
rs62272790	0.84[AMR][1000 genomes]
rs62272793	0.84[AMR][1000 genomes]
rs62272799	0.84[AMR][1000 genomes]
rs66850724	0.84[AMR][1000 genomes]
rs73154564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73154587	0.84[AMR][1000 genomes]
rs73155914	0.84[AMR][1000 genomes]
rs7648832	0.84[AMR][1000 genomes]
rs9637414	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
7	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 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	chr3:160176600-160180000	Weak transcription	Brain Substantia Nigra	brain
2	chr3:160178600-160181200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:160179000-160182000	Enhancers	Brain Anterior Caudate	brain
4	chr3:160179000-160182000	Enhancers	Brain Cingulate Gyrus	brain
5	chr3:160179600-160181200	Enhancers	Brain Hippocampus Middle	brain
6	chr3:160179800-160182000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:160179800-160188000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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