Variant report

Variant	rs1914339
Chromosome Location	chr2:72609738-72609739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs10173152	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175824	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176044	0.81[AMR][1000 genomes];0.94[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];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496183	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496185	1.00[ASN][1000 genomes]
rs1079144	1.00[ASN][1000 genomes]
rs11126367	1.00[ASN][1000 genomes]
rs11674508	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680197	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681845	1.00[ASN][1000 genomes]
rs11682749	1.00[ASN][1000 genomes]
rs11684981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	1.00[ASN][1000 genomes]
rs11884162	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11884225	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884869	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887356	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890482	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891573	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892598	1.00[ASN][1000 genomes]
rs11894521	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897200	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899672	1.00[ASN][1000 genomes]
rs11902051	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903453	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903908	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903912	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387	1.00[ASN][1000 genomes]
rs1517179	0.86[AMR][1000 genomes];0.97[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]
rs17008057	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008082	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008143	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008186	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17008188	1.00[ASN][1000 genomes]
rs17008293	1.00[ASN][1000 genomes]
rs17008315	1.00[ASN][1000 genomes]
rs17040320	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949377	0.81[AFR][1000 genomes];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	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508623	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55700162	1.00[ASN][1000 genomes]
rs55714718	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55727931	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55728837	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825364	1.00[ASN][1000 genomes]
rs55840408	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939880	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109129	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173504	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56178437	1.00[ASN][1000 genomes]
rs56184446	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56718524	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56777837	1.00[ASN][1000 genomes]
rs57192957	1.00[ASN][1000 genomes]
rs57286048	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57730885	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58033567	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58035683	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58582296	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58967293	1.00[ASN][1000 genomes]
rs59176504	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59881252	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59974816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60325013	1.00[ASN][1000 genomes]
rs60536402	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60563535	1.00[ASN][1000 genomes]
rs60580301	1.00[ASN][1000 genomes]
rs60806585	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546763	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546769	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546770	0.86[AMR][1000 genomes]
rs6546771	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66489235	1.00[ASN][1000 genomes]
rs66539158	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66560019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66827358	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66888584	1.00[ASN][1000 genomes]
rs66920016	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707920	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67085067	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712930	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712989	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713712	1.00[ASN][1000 genomes]
rs67166018	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717250	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717899	1.00[ASN][1000 genomes]
rs6718052	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723380	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67235968	1.00[ASN][1000 genomes]
rs6724795	1.00[ASN][1000 genomes]
rs6727580	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731988	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733532	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733538	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735400	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740982	1.00[ASN][1000 genomes]
rs6743881	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746583	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746586	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67491855	1.00[ASN][1000 genomes]
rs6749495	1.00[ASN][1000 genomes]
rs67535553	1.00[ASN][1000 genomes]
rs6755440	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758689	0.83[AMR][1000 genomes];0.94[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];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719120	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835256	1.00[ASN][1000 genomes]
rs72835276	1.00[ASN][1000 genomes]
rs72841783	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72841795	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424190	0.81[AMR][1000 genomes];0.82[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561471	1.00[ASN][1000 genomes]
rs7565358	1.00[ASN][1000 genomes]
rs7569059	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571483	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571517	1.00[ASN][1000 genomes]
rs7575050	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587370	1.00[ASN][1000 genomes]
rs7591608	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592404	1.00[ASN][1000 genomes]
rs7596126	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599755	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600134	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603342	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603535	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604296	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607353	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7608054	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764766	1.00[ASN][1000 genomes]
rs9309465	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677947	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677959	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9678682	0.91[AMR][1000 genomes];0.94[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72592600-72613400	Weak transcription	Gastric	stomach
2	chr2:72595000-72613400	Weak transcription	Aorta	Aorta
3	chr2:72595000-72613600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:72595200-72613400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:72595200-72613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:72595200-72613400	Weak transcription	Fetal Stomach	stomach
7	chr2:72595200-72613400	Weak transcription	Pancreas	Pancrea
8	chr2:72595200-72613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:72595200-72613600	Weak transcription	Right Ventricle	heart
10	chr2:72595400-72613200	Weak transcription	Left Ventricle	heart
11	chr2:72595400-72613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:72599600-72613400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:72600000-72613400	Weak transcription	Ovary	ovary
14	chr2:72601200-72613400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:72603800-72613600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:72604000-72613400	Weak transcription	HSMMtube	muscle
17	chr2:72605600-72613600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:72605800-72613200	Weak transcription	Brain Anterior Caudate	brain
19	chr2:72606000-72613400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:72606200-72613400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:72606600-72613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:72606800-72611000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:72606800-72612400	Weak transcription	Fetal Heart	heart
24	chr2:72606800-72619400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:72607000-72609800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:72607000-72610200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:72607000-72613400	Weak transcription	Esophagus	oesophagus
28	chr2:72607000-72613600	Weak transcription	Brain Angular Gyrus	brain

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