Variant report

Variant	rs66560019
Chromosome Location	chr2:72606790-72606791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10173152	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175824	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176044	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193621	1.00[ASN][1000 genomes]
rs10197528	1.00[ASN][1000 genomes]
rs10203221	1.00[ASN][1000 genomes]
rs10207869	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496183	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496185	1.00[ASN][1000 genomes]
rs1079144	1.00[ASN][1000 genomes]
rs11126367	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11674508	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675268	0.86[AFR][1000 genomes]
rs11680197	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681845	1.00[ASN][1000 genomes]
rs11682749	1.00[ASN][1000 genomes]
rs11684981	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685876	1.00[ASN][1000 genomes]
rs11685903	1.00[ASN][1000 genomes]
rs11689707	1.00[ASN][1000 genomes]
rs11695000	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11884162	1.00[ASN][1000 genomes]
rs11884225	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884869	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887356	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890482	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891573	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892598	1.00[ASN][1000 genomes]
rs11894521	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897200	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899672	1.00[ASN][1000 genomes]
rs11902051	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903453	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903908	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903912	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411648	1.00[ASN][1000 genomes]
rs1387	1.00[ASN][1000 genomes]
rs1517179	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];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]
rs17008015	0.82[AFR][1000 genomes]
rs17008057	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008082	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008143	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008186	1.00[ASN][1000 genomes]
rs17008188	1.00[ASN][1000 genomes]
rs17008208	0.87[AFR][1000 genomes]
rs17008293	1.00[ASN][1000 genomes]
rs17008315	1.00[ASN][1000 genomes]
rs17040320	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914339	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949377	1.00[ASN][1000 genomes]
rs28503372	1.00[ASN][1000 genomes]
rs2901190	1.00[ASN][1000 genomes]
rs34172703	1.00[ASN][1000 genomes]
rs35064163	1.00[ASN][1000 genomes]
rs4507127	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508623	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55700162	1.00[ASN][1000 genomes]
rs55714718	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55727931	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55728837	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825364	1.00[ASN][1000 genomes]
rs55840408	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109129	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173504	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56178437	1.00[ASN][1000 genomes]
rs56184446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56718524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56777837	1.00[ASN][1000 genomes]
rs57192957	1.00[ASN][1000 genomes]
rs57286048	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57730885	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58033567	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58035683	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58582296	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58967293	1.00[ASN][1000 genomes]
rs59176504	1.00[ASN][1000 genomes]
rs59881252	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59974816	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60325013	1.00[ASN][1000 genomes]
rs60536402	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60563535	1.00[ASN][1000 genomes]
rs60580301	1.00[ASN][1000 genomes]
rs60806585	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60872571	1.00[ASN][1000 genomes]
rs60977474	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	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546763	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546769	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546770	0.86[AMR][1000 genomes]
rs6546771	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66489235	1.00[ASN][1000 genomes]
rs66539158	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66827358	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66888584	1.00[ASN][1000 genomes]
rs66920016	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707920	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67085067	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709233	1.00[ASN][1000 genomes]
rs6709493	1.00[ASN][1000 genomes]
rs6711442	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712930	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712989	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713712	1.00[ASN][1000 genomes]
rs67166018	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717250	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717899	1.00[ASN][1000 genomes]
rs6718052	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723136	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723380	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67235968	1.00[ASN][1000 genomes]
rs6724795	1.00[ASN][1000 genomes]
rs6727580	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731631	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731988	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733532	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733538	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735400	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738521	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740982	1.00[ASN][1000 genomes]
rs6743881	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746583	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746586	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67491855	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6749495	1.00[ASN][1000 genomes]
rs67535553	1.00[ASN][1000 genomes]
rs6755440	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758689	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67970313	1.00[ASN][1000 genomes]
rs68172337	1.00[ASN][1000 genomes]
rs719119	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719120	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835256	1.00[ASN][1000 genomes]
rs72835276	1.00[ASN][1000 genomes]
rs72841783	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72841795	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845175	1.00[ASN][1000 genomes]
rs72908315	1.00[ASN][1000 genomes]
rs72908317	1.00[ASN][1000 genomes]
rs7420583	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424190	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557942	1.00[ASN][1000 genomes]
rs7558666	1.00[ASN][1000 genomes]
rs7559116	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561471	1.00[ASN][1000 genomes]
rs7565358	1.00[ASN][1000 genomes]
rs7569059	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571483	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571517	1.00[ASN][1000 genomes]
rs7575050	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577244	1.00[ASN][1000 genomes]
rs7577354	1.00[ASN][1000 genomes]
rs7577860	1.00[ASN][1000 genomes]
rs7583268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587370	1.00[ASN][1000 genomes]
rs7591608	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592404	1.00[ASN][1000 genomes]
rs7596126	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599755	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600134	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603342	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603535	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604296	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607353	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7608054	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764766	1.00[ASN][1000 genomes]
rs9309465	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677947	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677959	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9678682	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3429281	chr2:72590346-72623676	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	nsv2773	chr2:72603908-72649311	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72559200-72607400	Weak transcription	Liver	Liver
2	chr2:72572200-72607200	Weak transcription	Psoas Muscle	Psoas
3	chr2:72581600-72607800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:72592600-72613400	Weak transcription	Gastric	stomach
5	chr2:72594200-72608400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:72594400-72607200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:72595000-72613400	Weak transcription	Aorta	Aorta
8	chr2:72595000-72613600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:72595200-72606800	Weak transcription	Lung	lung
10	chr2:72595200-72608600	Weak transcription	NHEK	skin
11	chr2:72595200-72613400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:72595200-72613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:72595200-72613400	Weak transcription	Fetal Stomach	stomach
14	chr2:72595200-72613400	Weak transcription	Pancreas	Pancrea
15	chr2:72595200-72613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:72595200-72613600	Weak transcription	Right Ventricle	heart
17	chr2:72595400-72613200	Weak transcription	Left Ventricle	heart
18	chr2:72595400-72613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:72597200-72607000	Weak transcription	Fetal Brain Male	brain
20	chr2:72597800-72606800	Weak transcription	Esophagus	oesophagus
21	chr2:72599600-72613400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:72600000-72613400	Weak transcription	Ovary	ovary
23	chr2:72601200-72613400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:72602400-72608600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:72603200-72606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:72603800-72613600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:72604000-72607800	Weak transcription	Fetal Brain Female	brain
28	chr2:72604000-72608400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:72604000-72613400	Weak transcription	HSMMtube	muscle
30	chr2:72604200-72607000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:72604200-72607000	Strong transcription	Placenta	Placenta
32	chr2:72604400-72607600	Weak transcription	Primary T cells from cord blood	blood
33	chr2:72604600-72608400	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:72604600-72608600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:72604800-72607000	Strong transcription	Brain Angular Gyrus	brain
36	chr2:72604800-72607400	Weak transcription	Brain Germinal Matrix	brain
37	chr2:72605000-72607000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:72605000-72608600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:72605200-72606800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:72605200-72607200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:72605200-72607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:72605400-72606800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:72605400-72607000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:72605400-72607000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:72605400-72607000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:72605400-72607000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:72605400-72607200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:72605400-72607600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:72605400-72608000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:72605600-72607000	Strong transcription	Adipose Nuclei	Adipose

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