Variant report

Variant	rs73081487
Chromosome Location	chr1:215663256-215663257
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215647301..215647833-chr1:215663192..215664017,2	MCF-7	breast:
2	chr1:215653919..215659650-chr1:215659919..215663792,9	MCF-7	breast:
3	chr1:215646817..215649143-chr1:215661987..215663671,2	MCF-7	breast:
4	chr1:215656949..215659189-chr1:215661543..215664424,2	K562	blood:
5	chr1:215598355..215599119-chr1:215661939..215663301,3	MCF-7	breast:
6	chr1:215598452..215599119-chr1:215662801..215663769,2	MCF-7	breast:

Extended variants
information (count: 213 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:208)

rs_ID	r²[population]
rs10127809	0.88[ASN][1000 genomes]
rs10494998	0.81[ASN][1000 genomes]
rs11120588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062740	0.81[ASN][1000 genomes]
rs12064396	0.81[ASN][1000 genomes]
rs12066481	0.81[ASN][1000 genomes]
rs12070874	0.81[ASN][1000 genomes]
rs12080428	0.81[ASN][1000 genomes]
rs12084684	0.81[ASN][1000 genomes]
rs12089271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12093830	0.81[ASN][1000 genomes]
rs12740635	1.00[AFR][1000 genomes]
rs13376274	0.81[ASN][1000 genomes]
rs13376355	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1395722	0.81[ASN][1000 genomes]
rs1557172	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024732	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17024744	0.88[ASN][1000 genomes]
rs17024755	0.88[ASN][1000 genomes]
rs17024758	0.88[ASN][1000 genomes]
rs1819740	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1876407	0.81[ASN][1000 genomes]
rs1876408	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2677113	0.85[ASN][1000 genomes]
rs2797392	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2885989	0.88[ASN][1000 genomes]
rs35134381	0.88[ASN][1000 genomes]
rs3753837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3753838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767252	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767258	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767259	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3767260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3845523	0.81[ASN][1000 genomes]
rs41304083	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs41308435	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs41315587	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4607849	0.88[ASN][1000 genomes]
rs56728838	1.00[AFR][1000 genomes]
rs56783105	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56802573	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56849908	1.00[AFR][1000 genomes]
rs56956076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957283	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57110734	1.00[AMR][1000 genomes]
rs57179404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57309511	0.88[ASN][1000 genomes]
rs57311096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57379455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57397989	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57420199	1.00[AFR][1000 genomes]
rs57432920	1.00[AFR][1000 genomes]
rs57563355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57628126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57758604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57772200	1.00[AFR][1000 genomes]
rs57782276	1.00[AFR][1000 genomes]
rs57861859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57935471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58102262	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58162887	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58163611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58257972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58330534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58342290	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58393812	1.00[AFR][1000 genomes]
rs58425452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58542168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58557470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58594611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58597977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58616406	1.00[AFR][1000 genomes]
rs58629829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58649725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58682085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58759277	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58760828	1.00[AFR][1000 genomes]
rs58836680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58867901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58896701	1.00[AFR][1000 genomes]
rs58919310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59015398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59026507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59040705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59192192	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59233975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59319848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59577074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59628625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59635576	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59636344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59762493	1.00[AFR][1000 genomes]
rs60026262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60134994	1.00[AFR][1000 genomes]
rs60365921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60404320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60533889	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60590154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60620576	0.88[ASN][1000 genomes]
rs60987968	1.00[AFR][1000 genomes]
rs61057668	0.81[ASN][1000 genomes]
rs61059263	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61080723	1.00[AFR][1000 genomes]
rs61167296	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61362928	1.00[AMR][1000 genomes]
rs61368758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61400453	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61490597	1.00[AFR][1000 genomes]
rs61502956	0.92[ASN][1000 genomes]
rs61522423	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61568482	1.00[AFR][1000 genomes]
rs61600848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61618553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61633090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61685588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540901	0.92[ASN][1000 genomes]
rs6674016	0.81[ASN][1000 genomes]
rs6678049	0.81[ASN][1000 genomes]
rs6679048	0.81[ASN][1000 genomes]
rs6686570	0.81[ASN][1000 genomes]
rs6689680	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6700397	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73081431	1.00[AFR][1000 genomes]
rs73081436	1.00[AFR][1000 genomes]
rs73081438	1.00[AFR][1000 genomes]
rs73081440	1.00[AFR][1000 genomes]
rs73081443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081445	1.00[AFR][1000 genomes]
rs73081447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081450	1.00[AFR][1000 genomes]
rs73081451	1.00[AFR][1000 genomes]
rs73081453	1.00[AFR][1000 genomes]
rs73081455	1.00[AFR][1000 genomes]
rs73081459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081462	1.00[AFR][1000 genomes]
rs73081464	1.00[AFR][1000 genomes]
rs73081465	1.00[AFR][1000 genomes]
rs73081466	1.00[AFR][1000 genomes]
rs73081469	1.00[AFR][1000 genomes]
rs73081470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081472	1.00[AFR][1000 genomes]
rs73081474	1.00[AFR][1000 genomes]
rs73081477	1.00[AFR][1000 genomes]
rs73081479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081482	1.00[AFR][1000 genomes]
rs73081485	1.00[AFR][1000 genomes]
rs73081486	1.00[AFR][1000 genomes]
rs73081489	1.00[AFR][1000 genomes]
rs73081490	1.00[AFR][1000 genomes]
rs73081491	1.00[AFR][1000 genomes]
rs73081497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081499	1.00[AFR][1000 genomes]
rs73081501	1.00[AFR][1000 genomes]
rs73083403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73083404	1.00[AFR][1000 genomes]
rs73083406	1.00[AFR][1000 genomes]
rs73083409	1.00[AFR][1000 genomes]
rs73083410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083413	1.00[AFR][1000 genomes]
rs73083415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73085404	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73085410	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73087423	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73087440	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73087444	0.92[ASN][1000 genomes]
rs73087448	0.92[ASN][1000 genomes]
rs73087450	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73087454	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73087457	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73087461	0.89[ASN][1000 genomes]
rs73087467	0.89[ASN][1000 genomes]
rs73090166	0.81[ASN][1000 genomes]
rs73090172	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090177	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090179	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73091959	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73091984	0.88[ASN][1000 genomes]
rs73091986	0.88[ASN][1000 genomes]
rs73091998	0.88[ASN][1000 genomes]
rs73094106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73094120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73100105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100110	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100128	1.00[AFR][1000 genomes]
rs73100129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100142	1.00[AFR][1000 genomes]
rs73100147	1.00[AFR][1000 genomes]
rs73100151	1.00[AFR][1000 genomes]
rs73100153	1.00[AFR][1000 genomes]
rs7531580	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545425	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832537	chr1:215509026-215705105	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1014266	chr1:215573051-215730838	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv947159	chr1:215645387-215673199	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215659800-215663600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:215660000-215663600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:215662000-215663400	Enhancers	Osteobl	bone
4	chr1:215662600-215664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:215662800-215664200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:215663200-215663600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:215663200-215663600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:215663200-215664000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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