Variant report

Variant	rs73219487
Chromosome Location	chr21:41178982-41178983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41176286..41179119-chr21:41223503..41225778,2	MCF-7	breast:
2	chr21:41178535..41181156-chr21:41183661..41185952,2	MCF-7	breast:
3	chr21:41164154..41166617-chr21:41178349..41181058,2	MCF-7	breast:
4	chr21:41173962..41176069-chr21:41178013..41180055,3	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs16998635	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16998638	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16998655	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2410184	0.87[ASN][1000 genomes]
rs2837210	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2837235	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2837238	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837239	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837240	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837241	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837242	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837243	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837244	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837251	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2837252	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2837254	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2898386	0.87[ASN][1000 genomes]
rs378814	1.00[ASN][1000 genomes]
rs4390832	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs461503	1.00[ASN][1000 genomes]
rs55655475	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55684706	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55728093	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55742790	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55760722	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55776043	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55781006	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55860353	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55861818	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55884303	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55909108	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55909830	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55926748	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55928419	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55934901	0.85[ASN][1000 genomes]
rs56036187	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56090566	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56115387	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56124117	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56131077	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56225114	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56347307	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56366918	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56373284	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56374307	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56389826	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57022486	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57347860	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57470272	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57759710	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57782102	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58091194	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58188293	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59123531	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59131687	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60383387	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61005556	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61422649	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61549838	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6517572	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66495451	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66560117	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66704860	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66722528	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66739666	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66804248	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66820219	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66920289	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66936107	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66957543	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66958418	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66999256	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67044789	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67201726	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67229478	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67233221	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67499448	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67562015	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67613662	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67633796	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67676396	0.87[EUR][1000 genomes]
rs67684072	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67833859	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67897619	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67941032	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68016066	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68035842	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68101788	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68176580	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs720942	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7278863	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7279032	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7281712	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7283816	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73219408	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73219471	0.88[EUR][1000 genomes]
rs73219473	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73219495	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221214	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221215	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221226	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221227	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221242	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221245	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221246	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221247	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221248	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221249	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73221251	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221252	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221254	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221256	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221260	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221261	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73221269	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs741864	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8127171	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8133712	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8134022	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs986350	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41161400-41180000	Weak transcription	Pancreas	Pancrea
2	chr21:41164200-41185600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:41176800-41184200	Weak transcription	Fetal Brain Male	brain
4	chr21:41177000-41180800	Weak transcription	Fetal Heart	heart
5	chr21:41177800-41179200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:41177800-41179200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr21:41178000-41179400	Weak transcription	Fetal Lung	lung
8	chr21:41178000-41182200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:41178600-41180600	Enhancers	Placenta	Placenta

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