Variant report

Variant	rs62358993
Chromosome Location	chr5:37493299-37493300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10461981	0.96[ASN][1000 genomes]
rs10461982	0.89[ASN][1000 genomes]
rs10805626	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10941338	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10941340	0.99[ASN][1000 genomes]
rs10941343	0.80[AFR][1000 genomes]
rs11739453	0.96[ASN][1000 genomes]
rs11745000	0.98[ASN][1000 genomes]
rs11745852	0.90[ASN][1000 genomes]
rs11746259	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11952015	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11957546	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11958226	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12109722	1.00[ASN][1000 genomes]
rs12188658	1.00[ASN][1000 genomes]
rs12516086	0.97[ASN][1000 genomes]
rs12516683	0.92[ASN][1000 genomes]
rs12518286	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12522043	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12523333	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12652433	0.80[AFR][1000 genomes]
rs12652895	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12657090	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12659405	0.87[ASN][1000 genomes]
rs13155335	1.00[ASN][1000 genomes]
rs13155645	0.98[ASN][1000 genomes]
rs13163168	1.00[ASN][1000 genomes]
rs13175953	0.99[ASN][1000 genomes]
rs13181312	0.96[ASN][1000 genomes]
rs13188782	0.98[ASN][1000 genomes]
rs13189481	1.00[ASN][1000 genomes]
rs13189752	0.93[ASN][1000 genomes]
rs1829293	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1985183	0.82[ASN][1000 genomes]
rs2102828	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2366419	0.86[ASN][1000 genomes]
rs2886667	0.99[ASN][1000 genomes]
rs34555613	0.94[ASN][1000 genomes]
rs35187630	0.99[ASN][1000 genomes]
rs35426020	1.00[ASN][1000 genomes]
rs35576475	1.00[ASN][1000 genomes]
rs35624889	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35871208	0.97[ASN][1000 genomes]
rs36186847	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs36190855	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4086257	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4272153	1.00[ASN][1000 genomes]
rs4285256	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4323257	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4451074	1.00[ASN][1000 genomes]
rs4541679	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4546409	0.94[ASN][1000 genomes]
rs4610485	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4618453	1.00[ASN][1000 genomes]
rs4639255	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs477420	0.82[ASN][1000 genomes]
rs4869436	0.87[ASN][1000 genomes]
rs4869515	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4869524	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4869526	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs512562	0.82[ASN][1000 genomes]
rs517694	0.83[ASN][1000 genomes]
rs533889	0.82[ASN][1000 genomes]
rs55716037	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs55758219	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55872839	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs559516	0.87[ASN][1000 genomes]
rs562154	0.83[ASN][1000 genomes]
rs56264101	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs56305849	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56307385	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs565691	0.82[ASN][1000 genomes]
rs57424532	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs578236	0.82[ASN][1000 genomes]
rs57898883	0.87[ASN][1000 genomes]
rs58038848	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs596585	0.84[ASN][1000 genomes]
rs62359006	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62359011	0.84[ASN][1000 genomes]
rs66703795	0.92[ASN][1000 genomes]
rs668889	0.82[ASN][1000 genomes]
rs67608520	0.90[ASN][1000 genomes]
rs6867424	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6881383	0.80[AFR][1000 genomes]
rs7707460	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7715951	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7727005	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7727685	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7733244	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9687741	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9716978	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
11	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1015514	chr5:37409579-37522074	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	nsv1018722	chr5:37438609-37507131	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv880327	chr5:37443079-37567267	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv1030223	chr5:37463746-37514800	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv1033104	chr5:37463746-37555317	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37466000-37494400	Weak transcription	Osteobl	bone
2	chr5:37476600-37513200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:37477000-37504400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:37478400-37502800	Weak transcription	Psoas Muscle	Psoas
5	chr5:37478600-37494600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:37478600-37502600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:37480600-37493400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:37480600-37495600	Weak transcription	HSMM	muscle
9	chr5:37480600-37510800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:37481600-37519200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:37481800-37494600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:37481800-37494600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:37481800-37496800	Weak transcription	Aorta	Aorta
14	chr5:37481800-37499000	Weak transcription	HepG2	liver
15	chr5:37481800-37500400	Weak transcription	Brain Substantia Nigra	brain
16	chr5:37481800-37501400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:37481800-37503200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:37481800-37503200	Weak transcription	Fetal Brain Male	brain
19	chr5:37481800-37507400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:37481800-37519400	Weak transcription	Pancreas	Pancrea
21	chr5:37481800-37521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:37482000-37500000	Weak transcription	Fetal Kidney	kidney
23	chr5:37482200-37518400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:37482200-37519200	Weak transcription	Placenta	Placenta
25	chr5:37482600-37507000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:37482800-37494400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:37482800-37494400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:37482800-37494600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:37482800-37494600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:37482800-37494600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:37482800-37498200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:37483000-37496000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:37483000-37497000	Weak transcription	Fetal Brain Female	brain
34	chr5:37483000-37498400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:37483000-37498800	Weak transcription	Adipose Nuclei	Adipose
36	chr5:37483000-37521400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:37483000-37525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:37483200-37493400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:37483200-37494200	Weak transcription	Liver	Liver
40	chr5:37483200-37519600	Weak transcription	Left Ventricle	heart
41	chr5:37488200-37498200	Weak transcription	Fetal Lung	lung
42	chr5:37488200-37518400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:37488200-37519200	Weak transcription	Ovary	ovary
44	chr5:37488400-37496800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:37488600-37498600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:37488600-37501400	Weak transcription	K562	blood
47	chr5:37488600-37520200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:37489000-37495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:37489000-37548400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:37489200-37494400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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