Variant report

Variant	rs62358883
Chromosome Location	chr5:37742552-37742553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1019505	0.80[AMR][1000 genomes]
rs11745953	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11747548	0.84[EUR][1000 genomes]
rs11750837	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11750840	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188864	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189078	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12520944	0.84[EUR][1000 genomes]
rs12521063	0.84[EUR][1000 genomes]
rs2366673	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242251	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4257799	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4451075	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4516881	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4582305	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4594879	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4608942	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4618454	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4869543	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55708822	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56051431	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56051756	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59378089	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59829323	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61492379	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62360910	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6451337	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6451339	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72743184	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7725465	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
4	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
5	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
6	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
7	chr5:37719400-37743000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:37722400-37743200	Weak transcription	Esophagus	oesophagus
10	chr5:37727600-37745400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:37728000-37757200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:37728000-37758800	Weak transcription	Brain Germinal Matrix	brain
13	chr5:37728400-37743200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:37728400-37745400	Weak transcription	Thymus	Thymus
15	chr5:37728800-37754400	Weak transcription	Placenta	Placenta
16	chr5:37729000-37746000	Weak transcription	Fetal Thymus	thymus
17	chr5:37729400-37753200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:37729600-37743000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:37729600-37743200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:37729600-37745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:37729600-37755800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:37730000-37749800	Weak transcription	HepG2	liver
23	chr5:37730200-37752000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:37730200-37757000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:37730400-37752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:37731400-37742800	Weak transcription	Dnd41	blood
27	chr5:37731400-37743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:37731400-37745400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:37731600-37745600	Weak transcription	Fetal Lung	lung
30	chr5:37735800-37744600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:37736000-37743200	Weak transcription	Lung	lung
32	chr5:37736200-37752200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:37736200-37752400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:37736400-37744000	Weak transcription	Fetal Brain Male	brain
35	chr5:37736600-37743000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:37737400-37744600	Strong transcription	Primary T cells from cord blood	blood
37	chr5:37737800-37754000	Weak transcription	Left Ventricle	heart
38	chr5:37738400-37742600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:37738400-37744400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:37738400-37757200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:37738600-37745200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:37738800-37743000	Weak transcription	Fetal Stomach	stomach
43	chr5:37738800-37756400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:37738800-37757400	Weak transcription	Brain Anterior Caudate	brain
45	chr5:37739000-37743200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:37739000-37743400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:37739000-37757200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:37739200-37751200	Weak transcription	NHEK	skin
49	chr5:37739200-37757600	Weak transcription	A549	lung
50	chr5:37739400-37743000	Weak transcription	Primary monocytes fromperipheralblood	blood

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