Variant report

Variant	rs17653822
Chromosome Location	chr2:20612351-20612352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20593415..20596009-chr2:20611195..20613787,2	MCF-7	breast:
2	chr2:20610139..20612822-chr2:20645076..20648295,4	MCF-7	breast:
3	chr2:20607895..20612833-chr2:20645228..20650823,10	MCF-7	breast:
4	chr2:20611214..20614002-chr2:20617108..20620081,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10856798	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11096661	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11096662	0.91[ASN][1000 genomes]
rs11675693	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11678068	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11683057	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11692468	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692578	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887662	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12472111	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12472980	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475795	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17670898	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2098293	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35133647	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58495411	0.81[AMR][1000 genomes]
rs62124611	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62124613	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62124635	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788926	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72788927	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20601400-20614800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:20610400-20621000	Weak transcription	Left Ventricle	heart
3	chr2:20611000-20613000	Enhancers	HepG2	liver
4	chr2:20611000-20614600	Weak transcription	Esophagus	oesophagus
5	chr2:20611200-20618200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:20611200-20618400	Weak transcription	HSMM	muscle
7	chr2:20611400-20615200	Weak transcription	HSMMtube	muscle
8	chr2:20611600-20614600	Weak transcription	Placenta	Placenta
9	chr2:20611600-20615200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:20611600-20615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:20611600-20618000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:20611600-20618400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:20611800-20615400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:20612000-20615200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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