Variant report

Variant	rs2475227
Chromosome Location	chr10:116251211-116251212
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11196753	0.82[AMR][1000 genomes]
rs11196758	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11196764	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11196766	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196768	0.87[AMR][1000 genomes]
rs2475224	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2475225	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2497679	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2497688	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2497702	0.83[ASN][1000 genomes]
rs34374858	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3802737	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7912323	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs941852	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9421175	0.90[AMR][1000 genomes];0.97[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	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116194400-116251600	Weak transcription	Small Intestine	intestine
2	chr10:116214600-116263600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:116222200-116264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
5	chr10:116225600-116278800	Weak transcription	HSMM	muscle
6	chr10:116231200-116251600	Weak transcription	GM12878-XiMat	blood
7	chr10:116238200-116251400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr10:116238400-116251600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr10:116241800-116251600	Strong transcription	HSMMtube	muscle
10	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
11	chr10:116243400-116251600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr10:116243800-116252000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:116245000-116258800	Weak transcription	Colonic Mucosa	Colon
14	chr10:116245400-116251400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:116246800-116252000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:116247000-116255200	Weak transcription	Fetal Kidney	kidney
17	chr10:116247600-116251400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr10:116247600-116251400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:116247600-116251400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr10:116247600-116251600	Weak transcription	Hela-S3	cervix
21	chr10:116247800-116251800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:116247800-116252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:116248000-116251400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:116248000-116258200	Weak transcription	Fetal Intestine Large	intestine
25	chr10:116248200-116251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr10:116248400-116251400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:116248600-116251600	Weak transcription	Fetal Heart	heart
28	chr10:116248800-116251800	Genic enhancers	Left Ventricle	heart
29	chr10:116248800-116252000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:116249000-116251600	Genic enhancers	Primary T cells from cord blood	blood
31	chr10:116249000-116251600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr10:116249200-116251400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:116249200-116251400	Strong transcription	Fetal Stomach	stomach
34	chr10:116249400-116251800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr10:116249600-116251800	Weak transcription	Psoas Muscle	Psoas
36	chr10:116249600-116264800	Weak transcription	Pancreas	Pancrea
37	chr10:116249800-116251400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr10:116249800-116251600	Weak transcription	Right Atrium	heart
39	chr10:116249800-116252800	Strong transcription	Liver	Liver
40	chr10:116249800-116259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:116250000-116251400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:116250000-116251400	Weak transcription	Esophagus	oesophagus
43	chr10:116250000-116251400	Weak transcription	NH-A	brain
44	chr10:116250000-116251600	Weak transcription	Fetal Brain Male	brain
45	chr10:116250000-116251600	Weak transcription	Lung	lung
46	chr10:116250000-116251600	Weak transcription	Right Ventricle	heart
47	chr10:116250000-116251800	Weak transcription	Fetal Brain Female	brain
48	chr10:116250000-116251800	Weak transcription	A549	lung
49	chr10:116250000-116252200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr10:116250000-116256600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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