Variant report

Variant	rs72808262
Chromosome Location	chr2:64193624-64193625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10166971	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10190776	0.84[ASN][1000 genomes]
rs12463827	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12466966	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468093	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12474366	0.83[EUR][1000 genomes]
rs12475294	0.95[EUR][1000 genomes]
rs12988017	0.88[EUR][1000 genomes]
rs12990604	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993544	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12996147	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12997303	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12999675	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13005218	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13007342	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13007731	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009774	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010817	0.90[EUR][1000 genomes]
rs13014781	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13015703	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13023542	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13025640	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13028805	0.89[EUR][1000 genomes]
rs13034260	0.94[EUR][1000 genomes]
rs1345479	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1437455	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1545196	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17555655	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17562312	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17620012	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17701685	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17701709	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17752683	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2002443	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119133	0.81[ASN][1000 genomes]
rs2287361	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2422110	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34043307	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34145077	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34196086	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34200806	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34239752	0.88[EUR][1000 genomes]
rs34512058	0.94[EUR][1000 genomes]
rs34683043	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34700615	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35058898	0.88[EUR][1000 genomes]
rs35122209	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35247801	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35521527	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35552326	0.87[EUR][1000 genomes]
rs35648996	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35693031	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35810427	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35939512	0.82[EUR][1000 genomes]
rs35972278	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35975566	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36085609	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36099158	0.88[EUR][1000 genomes]
rs3815616	0.95[EUR][1000 genomes]
rs3934536	0.93[EUR][1000 genomes]
rs4075010	0.84[EUR][1000 genomes]
rs4482470	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4485552	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4544421	0.94[EUR][1000 genomes]
rs4599090	0.94[EUR][1000 genomes]
rs4671072	0.90[EUR][1000 genomes]
rs4671537	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671538	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671540	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4671541	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66476638	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66535980	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66595136	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66650505	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66660401	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66993685	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67366434	0.89[EUR][1000 genomes]
rs6759803	0.82[EUR][1000 genomes]
rs67962955	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71422402	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808216	0.85[EUR][1000 genomes]
rs72808218	0.83[EUR][1000 genomes]
rs72808231	0.95[EUR][1000 genomes]
rs72808248	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808254	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808287	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808296	0.80[EUR][1000 genomes]
rs874695	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs893779	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][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	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers 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

No data

Chromatin state (count:120 , 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	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
3	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
4	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
7	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
8	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
9	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
12	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:64166800-64202600	Weak transcription	HMEC	breast
14	chr2:64168400-64198000	Weak transcription	Fetal Heart	heart
15	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
16	chr2:64168600-64202600	Weak transcription	K562	blood
17	chr2:64168800-64195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
19	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:64171800-64194000	Weak transcription	NHEK	skin
21	chr2:64173600-64202800	Weak transcription	Fetal Brain Female	brain
22	chr2:64175200-64203000	Weak transcription	Thymus	Thymus
23	chr2:64175400-64193800	Weak transcription	Right Ventricle	heart
24	chr2:64175600-64213000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:64175800-64196200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:64175800-64196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:64175800-64197800	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:64175800-64199600	Weak transcription	Fetal Stomach	stomach
29	chr2:64175800-64202800	Weak transcription	Gastric	stomach
30	chr2:64176000-64197600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:64176000-64202600	Weak transcription	Lung	lung
32	chr2:64176000-64204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:64176200-64198000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:64176200-64205400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:64176400-64205000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:64177200-64197600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:64177600-64196200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:64177600-64200800	Weak transcription	Fetal Kidney	kidney
40	chr2:64177600-64204600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:64177600-64212600	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:64177800-64195600	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:64178000-64194000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:64178200-64211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:64178800-64195600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:64178800-64202200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:64178800-64202600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:64179200-64202600	Weak transcription	Ovary	ovary
49	chr2:64183800-64204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:64184000-64205200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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