Variant report

Variant	rs7561471
Chromosome Location	chr2:72659065-72659066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10173152	1.00[ASN][1000 genomes]
rs10175824	1.00[ASN][1000 genomes]
rs10176044	1.00[ASN][1000 genomes]
rs10207869	1.00[ASN][1000 genomes]
rs10496183	1.00[ASN][1000 genomes]
rs10496184	0.91[EUR][1000 genomes]
rs10496185	1.00[ASN][1000 genomes]
rs11126367	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126369	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11674508	1.00[ASN][1000 genomes]
rs11675264	0.82[EUR][1000 genomes]
rs11675268	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11680197	1.00[ASN][1000 genomes]
rs11681845	1.00[ASN][1000 genomes]
rs11682749	1.00[ASN][1000 genomes]
rs11684981	1.00[ASN][1000 genomes]
rs11685876	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685903	1.00[ASN][1000 genomes]
rs11689707	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695000	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695629	0.96[EUR][1000 genomes]
rs11884162	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884225	1.00[ASN][1000 genomes]
rs11884869	1.00[ASN][1000 genomes]
rs11887356	1.00[ASN][1000 genomes]
rs11890482	1.00[ASN][1000 genomes]
rs11891573	1.00[ASN][1000 genomes]
rs11892598	1.00[ASN][1000 genomes]
rs11894521	1.00[ASN][1000 genomes]
rs11897200	1.00[ASN][1000 genomes]
rs11899672	1.00[ASN][1000 genomes]
rs11902051	1.00[ASN][1000 genomes]
rs11903453	1.00[ASN][1000 genomes]
rs11903908	1.00[ASN][1000 genomes]
rs11903912	1.00[ASN][1000 genomes]
rs1517179	1.00[ASN][1000 genomes]
rs17007922	1.00[ASN][1000 genomes]
rs17007926	1.00[ASN][1000 genomes]
rs17007939	1.00[ASN][1000 genomes]
rs17007984	1.00[ASN][1000 genomes]
rs17008057	1.00[ASN][1000 genomes]
rs17008082	1.00[ASN][1000 genomes]
rs17008143	1.00[ASN][1000 genomes]
rs17008186	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008188	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008208	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17008293	1.00[ASN][1000 genomes]
rs17008315	1.00[ASN][1000 genomes]
rs17040320	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1914339	1.00[ASN][1000 genomes]
rs1949377	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901190	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507127	1.00[ASN][1000 genomes]
rs4508623	1.00[ASN][1000 genomes]
rs55700162	1.00[ASN][1000 genomes]
rs55714718	1.00[ASN][1000 genomes]
rs55727931	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55728837	1.00[ASN][1000 genomes]
rs55825364	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55840408	1.00[ASN][1000 genomes]
rs55939880	1.00[ASN][1000 genomes]
rs56109129	1.00[ASN][1000 genomes]
rs56173504	1.00[ASN][1000 genomes]
rs56178437	1.00[ASN][1000 genomes]
rs56184446	1.00[ASN][1000 genomes]
rs56718524	1.00[ASN][1000 genomes]
rs56777837	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57192957	1.00[ASN][1000 genomes]
rs57286048	1.00[ASN][1000 genomes]
rs57730885	1.00[ASN][1000 genomes]
rs58033567	1.00[ASN][1000 genomes]
rs58035683	1.00[ASN][1000 genomes]
rs58582296	1.00[ASN][1000 genomes]
rs58967293	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59176504	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59881252	1.00[ASN][1000 genomes]
rs59974816	1.00[ASN][1000 genomes]
rs60325013	1.00[ASN][1000 genomes]
rs60536402	1.00[ASN][1000 genomes]
rs60563535	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60580301	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60806585	1.00[ASN][1000 genomes]
rs60872571	1.00[ASN][1000 genomes]
rs61037557	1.00[ASN][1000 genomes]
rs61448485	1.00[ASN][1000 genomes]
rs6546751	1.00[ASN][1000 genomes]
rs6546754	1.00[ASN][1000 genomes]
rs6546761	1.00[ASN][1000 genomes]
rs6546763	1.00[ASN][1000 genomes]
rs6546769	1.00[ASN][1000 genomes]
rs66489235	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66539158	1.00[ASN][1000 genomes]
rs66560019	1.00[ASN][1000 genomes]
rs66827358	1.00[ASN][1000 genomes]
rs66888584	1.00[ASN][1000 genomes]
rs66920016	1.00[ASN][1000 genomes]
rs67085067	1.00[ASN][1000 genomes]
rs6709233	1.00[ASN][1000 genomes]
rs6709493	1.00[ASN][1000 genomes]
rs6711442	1.00[ASN][1000 genomes]
rs6712930	1.00[ASN][1000 genomes]
rs6712989	1.00[ASN][1000 genomes]
rs6713712	1.00[ASN][1000 genomes]
rs67166018	1.00[ASN][1000 genomes]
rs6717250	1.00[ASN][1000 genomes]
rs6717899	1.00[ASN][1000 genomes]
rs6718052	1.00[ASN][1000 genomes]
rs6723136	1.00[ASN][1000 genomes]
rs6723380	1.00[ASN][1000 genomes]
rs6724795	1.00[ASN][1000 genomes]
rs6727580	1.00[ASN][1000 genomes]
rs6731631	1.00[ASN][1000 genomes]
rs6731988	1.00[ASN][1000 genomes]
rs6733532	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6733538	1.00[ASN][1000 genomes]
rs6735400	1.00[ASN][1000 genomes]
rs6738521	1.00[ASN][1000 genomes]
rs6740982	1.00[ASN][1000 genomes]
rs6743881	1.00[ASN][1000 genomes]
rs6746583	1.00[ASN][1000 genomes]
rs6746586	1.00[ASN][1000 genomes]
rs67491855	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749495	1.00[ASN][1000 genomes]
rs67535553	1.00[ASN][1000 genomes]
rs6755440	1.00[ASN][1000 genomes]
rs6758689	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67970313	1.00[ASN][1000 genomes]
rs68172337	1.00[ASN][1000 genomes]
rs719119	1.00[ASN][1000 genomes]
rs719120	1.00[ASN][1000 genomes]
rs72835256	1.00[ASN][1000 genomes]
rs72835276	1.00[ASN][1000 genomes]
rs72841783	1.00[ASN][1000 genomes]
rs72841795	1.00[ASN][1000 genomes]
rs72845175	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420583	1.00[ASN][1000 genomes]
rs7424190	1.00[ASN][1000 genomes]
rs7557942	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558666	1.00[ASN][1000 genomes]
rs7559116	1.00[ASN][1000 genomes]
rs7565358	1.00[ASN][1000 genomes]
rs7569059	1.00[ASN][1000 genomes]
rs7571483	1.00[ASN][1000 genomes]
rs7571517	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575050	1.00[ASN][1000 genomes]
rs7577244	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577354	1.00[ASN][1000 genomes]
rs7577860	1.00[ASN][1000 genomes]
rs7583268	1.00[ASN][1000 genomes]
rs7587370	1.00[ASN][1000 genomes]
rs7591608	1.00[ASN][1000 genomes]
rs7592404	1.00[ASN][1000 genomes]
rs7596126	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7599755	1.00[ASN][1000 genomes]
rs7600134	1.00[ASN][1000 genomes]
rs7603342	1.00[ASN][1000 genomes]
rs7603535	1.00[ASN][1000 genomes]
rs7604296	1.00[ASN][1000 genomes]
rs7608054	1.00[ASN][1000 genomes]
rs764766	1.00[ASN][1000 genomes]
rs9309465	1.00[ASN][1000 genomes]
rs9677947	1.00[ASN][1000 genomes]
rs9678682	1.00[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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72647400-72688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:72650400-72659600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:72653200-72675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:72654600-72671200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:72654800-72666000	Weak transcription	Gastric	stomach
6	chr2:72654800-72671400	Weak transcription	Aorta	Aorta
7	chr2:72655000-72690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:72655400-72667200	Weak transcription	Right Ventricle	heart
9	chr2:72655600-72664200	Weak transcription	Fetal Stomach	stomach
10	chr2:72655800-72664200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:72655800-72671400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:72655800-72690600	Weak transcription	Left Ventricle	heart
13	chr2:72657200-72671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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