Variant report

Variant	rs55699632
Chromosome Location	chr20:22815688-22815689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22813871..22817420-chr20:22819841..22822325,3	K562	blood:
2	chr20:22815412..22817658-chr20:22840004..22842490,2	MCF-7	breast:
3	chr20:22815149..22818148-chr20:22902918..22904475,2	MCF-7	breast:
4	chr20:22798693..22801110-chr20:22814481..22817052,2	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	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	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11908644	1.00[EUR][1000 genomes]
rs1331072	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1331074	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1331078	1.00[EUR][1000 genomes]
rs1360402	1.00[EUR][1000 genomes]
rs1411782	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1411784	1.00[EUR][1000 genomes]
rs16984573	1.00[EUR][1000 genomes]
rs16984593	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984596	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984600	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984620	1.00[EUR][1000 genomes]
rs16984633	1.00[EUR][1000 genomes]
rs16984646	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984649	1.00[EUR][1000 genomes]
rs16984657	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984671	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984679	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984680	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984685	1.00[EUR][1000 genomes]
rs16984691	1.00[EUR][1000 genomes]
rs2022610	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2022611	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];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	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4479491	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4550728	1.00[EUR][1000 genomes]
rs55642780	1.00[EUR][1000 genomes]
rs55798808	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55874703	1.00[EUR][1000 genomes]
rs55921313	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56000393	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56085198	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56341946	1.00[EUR][1000 genomes]
rs57146184	1.00[EUR][1000 genomes]
rs57731405	1.00[EUR][1000 genomes]
rs58220952	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];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	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6048392	1.00[EUR][1000 genomes]
rs6048402	1.00[EUR][1000 genomes]
rs60822844	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61029406	1.00[EUR][1000 genomes]
rs61567760	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];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	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[EUR][1000 genomes]
rs73900703	1.00[EUR][1000 genomes]
rs73900704	1.00[EUR][1000 genomes]
rs73900725	1.00[EUR][1000 genomes]
rs73900728	1.00[EUR][1000 genomes]
rs73900729	1.00[EUR][1000 genomes]
rs73900730	1.00[EUR][1000 genomes]
rs73900731	1.00[EUR][1000 genomes]
rs73900732	1.00[EUR][1000 genomes]
rs73900733	1.00[EUR][1000 genomes]
rs73900738	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	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];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[EUR][1000 genomes]
rs742853	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8116589	1.00[EUR][1000 genomes]
rs8116705	1.00[EUR][1000 genomes]
rs8125940	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs874335	1.00[EUR][1000 genomes]
rs944469	1.00[EUR][1000 genomes]
rs9680076	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];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	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
3	nsv510782	chr20:22806573-22907739	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22809000-22816000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:22809400-22816200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:22809600-22816200	Weak transcription	NHEK	skin
4	chr20:22810200-22816000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:22814400-22816800	Weak transcription	A549	lung
6	chr20:22814800-22816000	Weak transcription	Gastric	stomach
7	chr20:22814800-22816800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:22814800-22817600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:22815000-22815800	Weak transcription	Fetal Heart	heart
10	chr20:22815000-22815800	Weak transcription	Stomach Mucosa	stomach
11	chr20:22815000-22816600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr20:22815000-22817200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr20:22815000-22817600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr20:22815200-22816400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr20:22815200-22817200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr20:22815200-22818400	Enhancers	K562	blood
17	chr20:22815400-22816000	Weak transcription	Spleen	Spleen

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