Variant report

Variant	rs62136397
Chromosome Location	chr2:64152076-64152077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10496104	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11896894	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11899693	0.85[AFR][1000 genomes]
rs17028239	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17028316	0.81[AFR][1000 genomes]
rs17028343	0.83[AFR][1000 genomes]
rs3924029	1.00[EUR][1000 genomes]
rs4277507	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4470330	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55748575	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55977137	0.82[AFR][1000 genomes]
rs56053068	0.82[AFR][1000 genomes]
rs56155077	0.86[AFR][1000 genomes]
rs56342040	0.81[EUR][1000 genomes]
rs56674285	0.83[AFR][1000 genomes]
rs56677212	0.80[AFR][1000 genomes]
rs56978264	0.82[AFR][1000 genomes]
rs57085982	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs57101313	0.80[AFR][1000 genomes]
rs57120200	0.81[EUR][1000 genomes]
rs57202709	0.80[AFR][1000 genomes]
rs57844293	0.81[EUR][1000 genomes]
rs57877849	0.81[EUR][1000 genomes]
rs57936760	0.82[AFR][1000 genomes]
rs58074696	0.84[AFR][1000 genomes]
rs58198691	0.85[AFR][1000 genomes]
rs58208651	0.81[EUR][1000 genomes]
rs58297806	0.84[AFR][1000 genomes]
rs58472560	0.81[EUR][1000 genomes]
rs58982089	0.82[AFR][1000 genomes]
rs59156176	0.86[AFR][1000 genomes]
rs59335889	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs59540641	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59736629	0.82[AFR][1000 genomes]
rs60350159	0.84[AFR][1000 genomes]
rs60847776	0.83[AFR][1000 genomes]
rs61383573	0.81[AFR][1000 genomes]
rs61486417	0.82[AFR][1000 genomes]
rs62136361	0.81[EUR][1000 genomes]
rs62136362	0.86[EUR][1000 genomes]
rs62136364	0.86[EUR][1000 genomes]
rs62136366	0.86[EUR][1000 genomes]
rs62136367	0.86[EUR][1000 genomes]
rs62136369	0.90[EUR][1000 genomes]
rs62136391	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62136393	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62136402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62136407	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136423	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136429	0.86[AFR][1000 genomes]
rs62138819	0.81[EUR][1000 genomes]
rs62138820	0.81[EUR][1000 genomes]
rs62138822	0.81[EUR][1000 genomes]
rs62138823	0.81[EUR][1000 genomes]
rs62138824	0.81[EUR][1000 genomes]
rs6751397	0.81[EUR][1000 genomes]
rs7558570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582457	0.81[EUR][1000 genomes]
rs7606341	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
3	chr2:64118200-64153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:64129600-64153200	Weak transcription	Thymus	Thymus
5	chr2:64129600-64153600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:64129600-64153600	Weak transcription	Aorta	Aorta
7	chr2:64129600-64153600	Weak transcription	Pancreas	Pancrea
8	chr2:64129600-64154000	Weak transcription	Colonic Mucosa	Colon
9	chr2:64129600-64164000	Weak transcription	NHLF	lung
10	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
11	chr2:64129800-64154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:64130000-64153200	Weak transcription	Gastric	stomach
13	chr2:64130000-64153600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:64130000-64153800	Weak transcription	Esophagus	oesophagus
15	chr2:64130200-64153200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:64130200-64153600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:64130200-64153600	Weak transcription	Ovary	ovary
18	chr2:64130200-64153800	Weak transcription	Fetal Stomach	stomach
19	chr2:64130400-64155000	Strong transcription	HepG2	liver
20	chr2:64130400-64167600	Weak transcription	Fetal Heart	heart
21	chr2:64130400-64168400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
23	chr2:64130600-64153600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:64130600-64168000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:64130800-64174800	Weak transcription	Stomach Mucosa	stomach
26	chr2:64131000-64154200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:64131400-64155000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:64132000-64154200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:64134000-64153800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:64134000-64153800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:64134000-64154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:64134200-64153600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:64136200-64152400	Weak transcription	Fetal Brain Female	brain
34	chr2:64137400-64154800	Strong transcription	Primary B cells from cord blood	blood
35	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:64138400-64153200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:64138600-64168600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:64139000-64153600	Weak transcription	Lung	lung
39	chr2:64139000-64168200	Weak transcription	Psoas Muscle	Psoas
40	chr2:64139000-64172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:64139800-64153000	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:64139800-64161600	Weak transcription	HSMMtube	muscle
43	chr2:64139800-64167400	Weak transcription	NHEK	skin
44	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:64140400-64153600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:64140600-64154800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:64140600-64172400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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