Variant report

Variant	rs2483560
Chromosome Location	chr10:116325202-116325203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11196778	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12413487	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1333688	0.86[AMR][1000 genomes]
rs2483534	0.86[AMR][1000 genomes]
rs2483535	0.86[AMR][1000 genomes]
rs2483536	0.86[AMR][1000 genomes]
rs2483537	0.86[AMR][1000 genomes]
rs2483538	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2483539	0.86[AMR][1000 genomes]
rs2483540	0.86[AMR][1000 genomes]
rs2483541	0.86[AMR][1000 genomes]
rs2483542	0.86[AMR][1000 genomes]
rs2483543	0.84[AMR][1000 genomes]
rs2483544	0.86[AMR][1000 genomes]
rs2483545	0.86[AMR][1000 genomes]
rs2483546	0.86[AMR][1000 genomes]
rs2483548	0.86[AMR][1000 genomes]
rs2483549	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483550	0.86[AMR][1000 genomes]
rs2483552	0.86[AMR][1000 genomes]
rs2483553	0.86[AMR][1000 genomes]
rs2483554	0.86[AMR][1000 genomes]
rs2483555	0.86[AMR][1000 genomes]
rs2483556	0.86[AMR][1000 genomes]
rs2483557	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2483558	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2483559	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2483563	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2483568	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2483578	0.81[EUR][1000 genomes]
rs2483581	0.80[EUR][1000 genomes]
rs2483583	0.93[EUR][1000 genomes]
rs2483590	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2497663	0.93[EUR][1000 genomes]
rs2497725	0.86[AMR][1000 genomes]
rs2497726	0.84[AMR][1000 genomes]
rs2497727	0.86[AMR][1000 genomes]
rs2497728	0.86[AMR][1000 genomes]
rs2497729	0.86[AMR][1000 genomes]
rs2497730	0.86[AMR][1000 genomes]
rs2497731	0.86[AMR][1000 genomes]
rs2497732	0.86[AMR][1000 genomes]
rs2497733	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497735	0.85[AMR][1000 genomes]
rs2497736	0.86[AMR][1000 genomes]
rs2497737	0.86[AMR][1000 genomes]
rs2497738	0.86[AMR][1000 genomes]
rs2497739	0.86[AMR][1000 genomes]
rs2497740	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2497741	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2497742	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2497743	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497744	0.84[AMR][1000 genomes]
rs2497747	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2497748	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2497749	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4128920	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4998667	0.82[EUR][1000 genomes]
rs58938015	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60588618	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7085345	0.83[AMR][1000 genomes]
rs7091986	0.86[AMR][1000 genomes]
rs72826986	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72826987	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72829115	0.81[EUR][1000 genomes]
rs7913199	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7915116	0.86[AMR][1000 genomes]
rs7915452	0.84[AMR][1000 genomes]
rs9325544	0.83[AMR][1000 genomes]
rs9421186	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9421190	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs985273	0.85[AMR][1000 genomes];0.97[EUR][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:47 , 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	chr10:116318400-116328400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:116318400-116336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:116319000-116329400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:116319000-116330400	Weak transcription	Fetal Intestine Small	intestine
15	chr10:116319600-116329400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:116320400-116334000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:116321400-116329400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:116321400-116336600	Weak transcription	Fetal Lung	lung
19	chr10:116322400-116331800	Strong transcription	Liver	Liver
20	chr10:116322800-116326000	Weak transcription	Right Ventricle	heart
21	chr10:116322800-116330600	Weak transcription	Brain Substantia Nigra	brain
22	chr10:116323000-116329400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr10:116323000-116334600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:116323000-116336000	Weak transcription	Lung	lung
25	chr10:116323400-116352000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr10:116323800-116352000	Weak transcription	Fetal Intestine Large	intestine
27	chr10:116324000-116325400	Genic enhancers	Left Ventricle	heart
28	chr10:116324200-116337400	Weak transcription	Fetal Stomach	stomach
29	chr10:116324400-116325400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:116324400-116325400	Enhancers	HSMM	muscle
31	chr10:116324400-116325400	Enhancers	NHDF-Ad	bronchial
32	chr10:116324600-116325400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr10:116324800-116325400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:116324800-116325600	Strong transcription	Fetal Muscle Leg	muscle
35	chr10:116324800-116327400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:116324800-116334600	Weak transcription	HUVEC	blood vessel
37	chr10:116325000-116325400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:116325000-116330800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:116325000-116334400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr10:116325200-116325400	Enhancers	A549	lung
41	chr10:116325200-116325400	Genic enhancers	HSMMtube	muscle
42	chr10:116325200-116326200	Strong transcription	Fetal Heart	heart
43	chr10:116325200-116327000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:116325200-116328400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:116325200-116330600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr10:116325200-116331200	Weak transcription	NH-A	brain
47	chr10:116325200-116335200	Weak transcription	Brain Angular Gyrus	brain

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