Variant report

Variant	rs16984573
Chromosome Location	chr20:22802647-22802648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22800282..22803040-chr20:22808872..22810526,2	K562	blood:
2	chr20:22802506..22805267-chr20:22898919..22900611,2	MCF-7	breast:
3	chr20:22801106..22803065-chr20:22804637..22807434,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1106896	0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11905056	1.00[EUR][1000 genomes]
rs11905517	1.00[EUR][1000 genomes]
rs11905809	1.00[EUR][1000 genomes]
rs11907827	1.00[EUR][1000 genomes]
rs11908183	1.00[EUR][1000 genomes]
rs11908185	1.00[EUR][1000 genomes]
rs11908644	1.00[EUR][1000 genomes]
rs1331072	1.00[EUR][1000 genomes]
rs1331074	1.00[EUR][1000 genomes]
rs1331078	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1331079	1.00[TSI][hapmap]
rs1360402	1.00[EUR][1000 genomes]
rs1411782	1.00[EUR][1000 genomes]
rs1411784	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16984593	1.00[EUR][1000 genomes]
rs16984596	1.00[EUR][1000 genomes]
rs16984600	1.00[EUR][1000 genomes]
rs16984620	1.00[EUR][1000 genomes]
rs16984633	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16984646	1.00[EUR][1000 genomes]
rs16984649	1.00[EUR][1000 genomes]
rs16984657	1.00[EUR][1000 genomes]
rs16984671	1.00[EUR][1000 genomes]
rs16984679	1.00[EUR][1000 genomes]
rs16984680	1.00[EUR][1000 genomes]
rs16984685	1.00[EUR][1000 genomes]
rs16984691	1.00[EUR][1000 genomes]
rs2022610	1.00[EUR][1000 genomes]
rs2022611	1.00[EUR][1000 genomes]
rs2225449	1.00[EUR][1000 genomes]
rs2404448	1.00[EUR][1000 genomes]
rs2896858	1.00[EUR][1000 genomes]
rs41331349	1.00[EUR][1000 genomes]
rs4263182	1.00[EUR][1000 genomes]
rs4479491	1.00[EUR][1000 genomes]
rs4550728	1.00[EUR][1000 genomes]
rs55642780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55699632	1.00[EUR][1000 genomes]
rs55798808	1.00[EUR][1000 genomes]
rs55874703	1.00[EUR][1000 genomes]
rs55921313	1.00[EUR][1000 genomes]
rs56000393	1.00[EUR][1000 genomes]
rs56085198	1.00[EUR][1000 genomes]
rs56341946	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57146184	1.00[EUR][1000 genomes]
rs57731405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58220952	1.00[EUR][1000 genomes]
rs59021754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59740577	1.00[EUR][1000 genomes]
rs59891256	1.00[EUR][1000 genomes]
rs59903455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60092913	1.00[EUR][1000 genomes]
rs60238502	1.00[EUR][1000 genomes]
rs6048392	1.00[EUR][1000 genomes]
rs6048402	1.00[EUR][1000 genomes]
rs60822844	1.00[EUR][1000 genomes]
rs61029406	1.00[EUR][1000 genomes]
rs61567760	1.00[EUR][1000 genomes]
rs6515269	1.00[EUR][1000 genomes]
rs7262888	1.00[EUR][1000 genomes]
rs7264664	1.00[EUR][1000 genomes]
rs7267917	1.00[EUR][1000 genomes]
rs73900583	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900584	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900594	1.00[EUR][1000 genomes]
rs73900595	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900600	1.00[EUR][1000 genomes]
rs73900703	1.00[EUR][1000 genomes]
rs73900704	1.00[EUR][1000 genomes]
rs73900725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900729	1.00[EUR][1000 genomes]
rs73900730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900732	1.00[EUR][1000 genomes]
rs73900733	1.00[EUR][1000 genomes]
rs73900738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900747	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900748	1.00[EUR][1000 genomes]
rs73900749	1.00[EUR][1000 genomes]
rs73900751	1.00[EUR][1000 genomes]
rs73900753	1.00[EUR][1000 genomes]
rs73900754	1.00[EUR][1000 genomes]
rs73900755	1.00[EUR][1000 genomes]
rs73900756	1.00[EUR][1000 genomes]
rs73900757	1.00[EUR][1000 genomes]
rs73900758	1.00[EUR][1000 genomes]
rs73900768	1.00[EUR][1000 genomes]
rs73900769	1.00[EUR][1000 genomes]
rs73900771	1.00[EUR][1000 genomes]
rs73900772	1.00[EUR][1000 genomes]
rs73900773	1.00[EUR][1000 genomes]
rs73900774	1.00[EUR][1000 genomes]
rs73904303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8116589	1.00[EUR][1000 genomes]
rs8116705	1.00[EUR][1000 genomes]
rs8125940	1.00[EUR][1000 genomes]
rs874335	0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs944469	1.00[EUR][1000 genomes]
rs9680076	1.00[EUR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv3334	chr20:22773462-22818362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22797200-22804400	Weak transcription	HSMMtube	muscle
2	chr20:22799000-22803400	Enhancers	Placenta	Placenta
3	chr20:22800200-22806600	Weak transcription	Ovary	ovary
4	chr20:22800800-22802800	Weak transcription	Spleen	Spleen
5	chr20:22800800-22804000	Weak transcription	HMEC	breast
6	chr20:22801000-22802800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:22801400-22803000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr20:22801400-22803000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:22801600-22802800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:22801600-22803000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:22801600-22803800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr20:22801600-22810200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr20:22802000-22802800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:22802000-22802800	Enhancers	Fetal Stomach	stomach
15	chr20:22802000-22803000	Enhancers	Gastric	stomach
16	chr20:22802200-22802800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr20:22802200-22804000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:22802200-22804200	Enhancers	Fetal Muscle Leg	muscle
19	chr20:22802200-22804400	Enhancers	Fetal Muscle Trunk	muscle
20	chr20:22802200-22804800	Weak transcription	NHEK	skin
21	chr20:22802400-22803000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:22802400-22803200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:22802400-22805800	Weak transcription	A549	lung

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