Variant report

Variant	rs2483563
Chromosome Location	chr10:116330557-116330558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12413487	0.89[EUR][1000 genomes]
rs2483538	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483549	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483560	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2483568	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483578	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2483581	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2483583	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2497663	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2497733	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2497743	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2497747	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497748	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497749	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4128920	0.80[AMR][1000 genomes]
rs4998667	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58938015	0.89[EUR][1000 genomes]
rs60588618	0.80[EUR][1000 genomes]
rs72826986	0.80[EUR][1000 genomes]
rs72829115	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7913199	0.80[AMR][1000 genomes]
rs7915301	0.81[AMR][1000 genomes]
rs9421186	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9421190	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs985273	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116311000-116331400	Weak transcription	Fetal Brain Male	brain
2	chr10:116311600-116336600	Weak transcription	Colonic Mucosa	Colon
3	chr10:116312000-116331000	Weak transcription	Ovary	ovary
4	chr10:116312000-116334600	Weak transcription	Esophagus	oesophagus
5	chr10:116312000-116335000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:116312000-116335200	Weak transcription	Pancreas	Pancrea
7	chr10:116312200-116330800	Weak transcription	Adipose Nuclei	Adipose
8	chr10:116312400-116331200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr10:116318000-116335200	Weak transcription	Psoas Muscle	Psoas
10	chr10:116318000-116337200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:116318400-116336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:116320400-116334000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:116321400-116336600	Weak transcription	Fetal Lung	lung
14	chr10:116322400-116331800	Strong transcription	Liver	Liver
15	chr10:116322800-116330600	Weak transcription	Brain Substantia Nigra	brain
16	chr10:116323000-116334600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:116323000-116336000	Weak transcription	Lung	lung
18	chr10:116323400-116352000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:116323800-116352000	Weak transcription	Fetal Intestine Large	intestine
20	chr10:116324200-116337400	Weak transcription	Fetal Stomach	stomach
21	chr10:116324800-116334600	Weak transcription	HUVEC	blood vessel
22	chr10:116325000-116330800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:116325000-116334400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr10:116325200-116330600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:116325200-116331200	Weak transcription	NH-A	brain
26	chr10:116325200-116335200	Weak transcription	Brain Angular Gyrus	brain
27	chr10:116325400-116331000	Weak transcription	A549	lung
28	chr10:116325400-116335200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:116325400-116335600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:116325600-116336000	Weak transcription	Fetal Muscle Leg	muscle
31	chr10:116327000-116334600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:116327600-116331200	Weak transcription	Fetal Heart	heart
33	chr10:116328000-116334200	Weak transcription	Thymus	Thymus
34	chr10:116328400-116331600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:116328600-116331000	Strong transcription	Left Ventricle	heart
36	chr10:116329400-116331000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr10:116329400-116331000	Strong transcription	Right Ventricle	heart
38	chr10:116329400-116331200	Strong transcription	HSMMtube	muscle
39	chr10:116329400-116331400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:116329400-116331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:116329600-116331000	Weak transcription	Right Atrium	heart
42	chr10:116330200-116330800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr10:116330200-116335200	Weak transcription	HSMM	muscle
44	chr10:116330400-116331600	Strong transcription	Fetal Intestine Small	intestine
45	chr10:116330400-116331800	Enhancers	Aorta	Aorta
46	chr10:116330400-116336000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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