Variant report

Variant	rs2717506
Chromosome Location	chr2:37080344-37080345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37080118..37082736-chr2:37085866..37087782,2	K562	blood:
2	chr2:37070373..37072769-chr2:37080148..37082605,2	K562	blood:
3	chr2:37080118..37082736-chr2:37085866..37087782,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1015599	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1019311	1.00[EUR][1000 genomes]
rs11124550	1.00[EUR][1000 genomes]
rs11892892	1.00[EUR][1000 genomes]
rs11896317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254704	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2540921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540927	1.00[EUR][1000 genomes]
rs2540928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540935	1.00[EUR][1000 genomes]
rs2540937	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691117	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706810	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	1.00[EUR][1000 genomes]
rs2717499	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2717513	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717514	1.00[EUR][1000 genomes]
rs2717515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717517	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717521	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949393	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57644053	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709996	1.00[AMR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61382980	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61561618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723674	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs73924971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7593630	1.00[EUR][1000 genomes]
rs7593646	1.00[AMR][1000 genomes]
rs964853	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
4	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:37067400-37083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:37067600-37083800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
9	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
10	chr2:37068400-37095600	Weak transcription	Fetal Kidney	kidney
11	chr2:37068600-37083800	Weak transcription	HSMMtube	muscle
12	chr2:37068600-37085600	Weak transcription	A549	lung
13	chr2:37068800-37082400	Weak transcription	Fetal Brain Female	brain
14	chr2:37069800-37082400	Weak transcription	HepG2	liver
15	chr2:37071600-37087200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:37071800-37087200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:37072000-37083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:37072400-37083200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:37073800-37088200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:37073800-37098400	Weak transcription	Colonic Mucosa	Colon
21	chr2:37074000-37081200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:37074000-37087200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:37074000-37088600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:37074000-37089000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:37074200-37085600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:37075000-37083800	Weak transcription	Fetal Intestine Small	intestine
27	chr2:37075000-37086600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:37075200-37081400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:37075400-37088200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:37075600-37091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:37075600-37101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:37076600-37084000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:37076800-37083800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
37	chr2:37077000-37083200	Weak transcription	Brain Anterior Caudate	brain
38	chr2:37077000-37083800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:37077000-37083800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:37077000-37083800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:37077000-37083800	Weak transcription	Fetal Stomach	stomach
42	chr2:37077000-37083800	Weak transcription	Ovary	ovary
43	chr2:37077000-37085000	Weak transcription	Fetal Heart	heart
44	chr2:37077000-37093200	Weak transcription	Lung	lung
45	chr2:37077000-37102400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:37077000-37102400	Weak transcription	Gastric	stomach
47	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
48	chr2:37077000-37116200	Weak transcription	NHLF	lung
49	chr2:37077200-37081000	Weak transcription	HMEC	breast
50	chr2:37077200-37081000	Weak transcription	HSMM	muscle

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