Variant report

Variant	rs2483599
Chromosome Location	chr10:116305377-116305378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10160023	0.81[ASN][1000 genomes]
rs10749169	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10749170	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10885572	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10885573	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10885575	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10885580	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11196779	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11196780	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11196781	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11196785	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12569428	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2145894	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2247528	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247624	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475240	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2475241	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2475242	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2483531	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483564	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2483571	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483577	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2483579	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483580	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483584	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2483585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497710	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2497712	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497718	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497719	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497720	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497721	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497722	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497723	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35078486	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144582	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4514325	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4568918	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56001223	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56086836	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56339171	0.81[ASN][1000 genomes]
rs7094292	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs867736	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883511	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883768	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116287200-116307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:116287400-116310600	Weak transcription	Brain Angular Gyrus	brain
3	chr10:116287400-116310600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:116297600-116308600	Enhancers	Primary B cells from peripheral blood	blood
5	chr10:116297800-116308600	Enhancers	Stomach Mucosa	stomach
6	chr10:116298000-116308800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:116298200-116307800	Strong transcription	Fetal Intestine Small	intestine
8	chr10:116298400-116307200	Strong transcription	Liver	Liver
9	chr10:116298400-116307600	Weak transcription	Brain Substantia Nigra	brain
10	chr10:116298400-116310200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:116298600-116311600	Weak transcription	Gastric	stomach
12	chr10:116298800-116310400	Weak transcription	Small Intestine	intestine
13	chr10:116298800-116310600	Weak transcription	Colonic Mucosa	Colon
14	chr10:116299600-116308200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:116299800-116308800	Genic enhancers	Left Ventricle	heart
16	chr10:116300000-116306400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr10:116300200-116307400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:116300400-116307600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:116300600-116310600	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:116301800-116307400	Weak transcription	Placenta	Placenta
21	chr10:116301800-116310600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:116301800-116310600	Weak transcription	Fetal Lung	lung
23	chr10:116301800-116310800	Weak transcription	HSMM	muscle
24	chr10:116302800-116307200	Weak transcription	Right Atrium	heart
25	chr10:116303200-116305400	Enhancers	HMEC	breast
26	chr10:116303200-116306800	Weak transcription	HUVEC	blood vessel
27	chr10:116303400-116305600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:116303400-116306000	Enhancers	Primary hematopoietic stem cells	blood
29	chr10:116303400-116306000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:116303600-116305600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:116303800-116307600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:116304000-116306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr10:116304000-116307200	Enhancers	Primary B cells from cord blood	blood
34	chr10:116304000-116307800	Strong transcription	Right Ventricle	heart
35	chr10:116304000-116310600	Weak transcription	Brain Anterior Caudate	brain
36	chr10:116304000-116310600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:116304200-116306400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:116304200-116307600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:116304200-116308800	Enhancers	Fetal Thymus	thymus
40	chr10:116304200-116310800	Weak transcription	Pancreas	Pancrea
41	chr10:116304400-116306000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr10:116304400-116306200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:116304400-116307000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr10:116304400-116308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:116304400-116308800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr10:116304600-116305800	Enhancers	Primary T cells from cord blood	blood
47	chr10:116304600-116307000	Weak transcription	Fetal Heart	heart
48	chr10:116304600-116307400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr10:116304600-116308800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr10:116304600-116308800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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