Variant report

Variant	rs72808248
Chromosome Location	chr2:64170944-64170945
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64170689..64173594-chr2:64176755..64179622,2	K562	blood:

Extended variants
information (count: 94 )
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	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12466966	1.00[AFR][1000 genomes];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	1.00[AFR][1000 genomes];0.95[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	0.86[AFR][1000 genomes];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	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13007342	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13007731	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009774	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010817	0.90[EUR][1000 genomes]
rs13014781	0.87[AFR][1000 genomes];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	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13025640	1.00[AFR][1000 genomes];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	1.00[AFR][1000 genomes];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	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17562312	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	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17701709	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17752683	1.00[AFR][1000 genomes];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	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34043307	1.00[AFR][1000 genomes];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	0.86[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	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35247801	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35521527	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35552326	0.87[EUR][1000 genomes]
rs35648996	1.00[AFR][1000 genomes];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	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35939512	0.82[EUR][1000 genomes]
rs35972278	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35975566	1.00[AFR][1000 genomes];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	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671538	0.86[AFR][1000 genomes];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	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66476638	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66535980	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66595136	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66650505	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66660401	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66993685	1.00[AFR][1000 genomes];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	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71422402	1.00[AFR][1000 genomes];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]
rs72808254	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808262	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808287	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	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv874236	chr2:64154215-64179235	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	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:119 , 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	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
4	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
5	chr2:64130800-64174800	Weak transcription	Stomach Mucosa	stomach
6	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:64139000-64172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:64140600-64172400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:64147600-64178000	Weak transcription	A549	lung
16	chr2:64154400-64176800	Weak transcription	Colonic Mucosa	Colon
17	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
18	chr2:64154600-64174800	Weak transcription	Thymus	Thymus
19	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
20	chr2:64154800-64175000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:64154800-64175200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:64154800-64177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
24	chr2:64155000-64174800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:64155400-64174200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:64159200-64172400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:64159200-64181400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:64159400-64175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:64159800-64172000	Strong transcription	HepG2	liver
32	chr2:64159800-64172200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:64162200-64173200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:64162800-64183600	Weak transcription	HSMMtube	muscle
35	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
36	chr2:64163800-64172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:64164800-64171800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:64165600-64175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:64165600-64177000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:64165600-64193600	Weak transcription	NHLF	lung
41	chr2:64165800-64174800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:64166000-64175000	Weak transcription	Lung	lung
44	chr2:64166200-64172200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:64166800-64202600	Weak transcription	HMEC	breast
46	chr2:64167200-64174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:64167400-64178000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:64167600-64171000	Strong transcription	Dnd41	blood
49	chr2:64167600-64171600	Strong transcription	Placenta	Placenta
50	chr2:64168000-64171000	Weak transcription	NHEK	skin

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