Variant report

Variant	rs2404448
Chromosome Location	chr20:22785669-22785670
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	chr20:22778208..22779961-chr20:22785655..22787174,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1106896	0.83[AFR][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[EUR][1000 genomes]
rs1360402	1.00[EUR][1000 genomes]
rs1411782	1.00[EUR][1000 genomes]
rs1411784	1.00[EUR][1000 genomes]
rs16984573	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[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]
rs2896858	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41331349	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4263182	1.00[EUR][1000 genomes]
rs4479491	1.00[EUR][1000 genomes]
rs4550728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55642780	1.00[EUR][1000 genomes]
rs55699632	1.00[EUR][1000 genomes]
rs55798808	1.00[EUR][1000 genomes]
rs55874703	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55921313	1.00[EUR][1000 genomes]
rs56000393	1.00[EUR][1000 genomes]
rs56085198	1.00[EUR][1000 genomes]
rs56341946	1.00[EUR][1000 genomes]
rs57146184	1.00[EUR][1000 genomes]
rs57731405	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58220952	1.00[EUR][1000 genomes]
rs59021754	1.00[EUR][1000 genomes]
rs59740577	1.00[EUR][1000 genomes]
rs59891256	1.00[EUR][1000 genomes]
rs59903455	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	1.00[EUR][1000 genomes]
rs73900584	1.00[EUR][1000 genomes]
rs73900594	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900595	1.00[EUR][1000 genomes]
rs73900596	1.00[EUR][1000 genomes]
rs73900597	1.00[EUR][1000 genomes]
rs73900600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900703	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900725	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73900728	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73900729	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900730	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73900731	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73900732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900734	0.89[AFR][1000 genomes]
rs73900738	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73900747	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	0.89[AFR][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	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs944469	1.00[EUR][1000 genomes]
rs9680076	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22776400-22785800	Weak transcription	Right Atrium	heart
2	chr20:22778600-22786200	Weak transcription	Gastric	stomach
3	chr20:22781800-22786400	Enhancers	HSMMtube	muscle
4	chr20:22782000-22789000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:22782200-22790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:22784000-22791400	Weak transcription	HMEC	breast
7	chr20:22784600-22785800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr20:22784600-22786000	Enhancers	Spleen	Spleen
9	chr20:22784600-22786400	Enhancers	HSMM	muscle
10	chr20:22784800-22787000	Enhancers	Fetal Muscle Leg	muscle
11	chr20:22784800-22787000	Enhancers	Ovary	ovary
12	chr20:22785000-22785800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:22785000-22786400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:22785200-22786000	Weak transcription	Aorta	Aorta
15	chr20:22785400-22786000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:22785400-22786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:22785400-22786000	Enhancers	Placenta	Placenta
18	chr20:22785400-22786000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr20:22785400-22786400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr20:22785400-22787400	Enhancers	A549	lung
21	chr20:22785600-22786000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:22785600-22786200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr20:22785600-22786400	Enhancers	Esophagus	oesophagus
24	chr20:22785600-22786400	Enhancers	Lung	lung
25	chr20:22785600-22786400	Enhancers	NHDF-Ad	bronchial

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