Variant report

Variant	rs60282658
Chromosome Location	chr2:54907809-54907810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs1549839	1.00[EUR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57381328	1.00[EUR][1000 genomes]
rs57623434	1.00[EUR][1000 genomes]
rs57749522	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[EUR][1000 genomes]
rs59755359	1.00[EUR][1000 genomes]
rs60410507	1.00[EUR][1000 genomes]
rs60853661	1.00[EUR][1000 genomes]
rs6705313	1.00[EUR][1000 genomes]
rs6709549	1.00[AMR][1000 genomes]
rs6714663	1.00[EUR][1000 genomes]
rs6728822	1.00[AMR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6743161	1.00[EUR][1000 genomes]
rs6743400	1.00[AMR][1000 genomes]
rs6743902	1.00[AMR][1000 genomes]
rs6751570	1.00[EUR][1000 genomes]
rs72906405	1.00[EUR][1000 genomes]
rs72906407	1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	1.00[EUR][1000 genomes]
rs72906425	1.00[EUR][1000 genomes]
rs72906426	1.00[EUR][1000 genomes]
rs72911566	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911570	1.00[EUR][1000 genomes]
rs72911573	1.00[EUR][1000 genomes]
rs72913540	1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915028	1.00[AMR][1000 genomes]
rs72915040	1.00[AMR][1000 genomes]
rs72915054	1.00[AMR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72915554	1.00[EUR][1000 genomes]
rs72915563	1.00[EUR][1000 genomes]
rs72915572	1.00[EUR][1000 genomes]
rs72915587	1.00[EUR][1000 genomes]
rs72915590	1.00[EUR][1000 genomes]
rs72917518	1.00[EUR][1000 genomes]
rs72917541	1.00[EUR][1000 genomes]
rs72917550	1.00[EUR][1000 genomes]
rs72917571	1.00[EUR][1000 genomes]
rs72918782	1.00[EUR][1000 genomes]
rs72918788	1.00[EUR][1000 genomes]
rs72919507	1.00[EUR][1000 genomes]
rs72920524	1.00[EUR][1000 genomes]
rs72920525	1.00[EUR][1000 genomes]
rs72920549	1.00[EUR][1000 genomes]
rs72920550	1.00[EUR][1000 genomes]
rs72920563	1.00[EUR][1000 genomes]
rs72920576	1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54900000-54908600	Enhancers	NHDF-Ad	bronchial
2	chr2:54901400-54908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:54903400-54908800	Weak transcription	Spleen	Spleen
4	chr2:54903400-54915600	Weak transcription	Right Atrium	heart
5	chr2:54904800-54908000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:54904800-54908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:54905800-54909400	Enhancers	Dnd41	blood
8	chr2:54907000-54908000	Enhancers	Brain Anterior Caudate	brain
9	chr2:54907000-54908200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:54907000-54908200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:54907000-54908200	Enhancers	Brain Substantia Nigra	brain
12	chr2:54907000-54908600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:54907200-54908200	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:54907200-54908600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:54907400-54908000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:54907400-54908200	Flanking Active TSS	GM12878-XiMat	blood
17	chr2:54907600-54908000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:54907600-54908000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:54907600-54908000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:54907600-54908000	Enhancers	Brain Angular Gyrus	brain
21	chr2:54907600-54908000	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:54907600-54908200	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:54907600-54908200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:54907600-54908200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:54907600-54908200	Enhancers	Liver	Liver
26	chr2:54907600-54908200	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:54907600-54908200	Enhancers	Fetal Intestine Large	intestine
28	chr2:54907600-54908200	Enhancers	HMEC	breast
29	chr2:54907600-54908200	Enhancers	HSMMtube	muscle
30	chr2:54907600-54908200	Enhancers	NHEK	skin
31	chr2:54907600-54908200	Enhancers	NHLF	lung
32	chr2:54907600-54908400	Enhancers	HepG2	liver
33	chr2:54907600-54908600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:54907600-54908600	Enhancers	Brain Hippocampus Middle	brain
35	chr2:54907600-54908600	Enhancers	Fetal Thymus	thymus
36	chr2:54907600-54908800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:54907600-54908800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:54907600-54908800	Enhancers	Lung	lung
39	chr2:54907800-54908000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr2:54907800-54908000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr2:54907800-54908000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:54907800-54908000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:54907800-54908000	Enhancers	Left Ventricle	heart
44	chr2:54907800-54908000	Flanking Active TSS	HSMM	muscle
45	chr2:54907800-54908000	Flanking Active TSS	Osteobl	bone
46	chr2:54907800-54908200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:54907800-54908200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:54907800-54908200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:54907800-54908200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:54907800-54908200	Enhancers	Brain Inferior Temporal Lobe	brain

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