Variant report

Variant	rs2160378
Chromosome Location	chr2:37097382-37097383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37095568..37097536-chr2:37100134..37102065,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1015599	0.83[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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2247610	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254704	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2540921	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540927	1.00[EUR][1000 genomes]
rs2540928	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540932	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540935	1.00[EUR][1000 genomes]
rs2540937	0.92[AFR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691117	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691121	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706810	1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	1.00[EUR][1000 genomes]
rs2717499	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	1.00[EUR][1000 genomes]
rs2717506	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717513	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717514	1.00[EUR][1000 genomes]
rs2717515	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717517	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717521	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949393	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57644053	0.83[AMR][1000 genomes]
rs59709996	0.83[AMR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61382980	0.88[AFR][1000 genomes]
rs61561618	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723674	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs73924971	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7593630	1.00[EUR][1000 genomes]
rs7593646	0.83[AMR][1000 genomes]
rs964853	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[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	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
2	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
4	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
5	chr2:37073800-37098400	Weak transcription	Colonic Mucosa	Colon
6	chr2:37075600-37101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
10	chr2:37077000-37102400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:37077000-37102400	Weak transcription	Gastric	stomach
12	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
13	chr2:37077000-37116200	Weak transcription	NHLF	lung
14	chr2:37077200-37102400	Weak transcription	Aorta	Aorta
15	chr2:37077200-37102400	Weak transcription	Pancreas	Pancrea
16	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:37078000-37098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
20	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:37080600-37105800	Strong transcription	Primary B cells from cord blood	blood
22	chr2:37081600-37100200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
24	chr2:37083800-37108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:37084200-37103200	Weak transcription	HSMMtube	muscle
26	chr2:37084400-37099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:37084400-37102400	Weak transcription	Spleen	Spleen
28	chr2:37085200-37098400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:37085800-37102000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:37086200-37100400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:37086400-37099400	Weak transcription	Ovary	ovary
32	chr2:37086400-37099400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:37086400-37103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:37088000-37101200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:37088000-37101400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:37089000-37101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:37090600-37105600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:37090800-37105200	Strong transcription	Adipose Nuclei	Adipose
40	chr2:37090800-37114200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:37091000-37105800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:37091000-37114000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:37091200-37097600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:37091200-37101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:37091200-37114400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:37091400-37105800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:37091600-37100800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:37091600-37101400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:37092800-37115600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:37093200-37099600	Strong transcription	Dnd41	blood

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