Variant report

Variant	rs4462519
Chromosome Location	chr14:55328429-55328430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10131232	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10133662	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10133941	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10483639	0.82[ASN][1000 genomes]
rs11626298	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848732	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12323905	0.82[AFR][1000 genomes]
rs12587434	0.86[ASN][1000 genomes]
rs12589758	0.86[ASN][1000 genomes]
rs17128004	0.82[ASN][1000 genomes]
rs2057368	0.80[ASN][1000 genomes]
rs2057369	0.80[ASN][1000 genomes]
rs2145945	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2149483	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2183081	0.81[AFR][1000 genomes]
rs2878168	0.90[ASN][1000 genomes]
rs4411417	0.86[ASN][1000 genomes]
rs67468157	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141685	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144602	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7148266	0.81[ASN][1000 genomes]
rs7151058	0.84[ASN][1000 genomes]
rs7154323	0.84[ASN][1000 genomes]
rs7155309	0.86[ASN][1000 genomes]
rs7161034	0.81[ASN][1000 genomes]
rs72713467	0.83[ASN][1000 genomes]
rs752688	0.84[ASN][1000 genomes]
rs8007201	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs841	0.84[ASN][1000 genomes]
rs9323272	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9671371	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671455	0.92[ASN][1000 genomes]
rs9671850	0.90[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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:55306400-55336800	Weak transcription	Dnd41	blood
5	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
7	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:55308200-55332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:55308400-55330600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:55311800-55331200	Weak transcription	Hela-S3	cervix
11	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
12	chr14:55321000-55329400	Weak transcription	Stomach Mucosa	stomach
13	chr14:55321000-55337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:55321200-55337000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:55321400-55329400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:55322800-55331600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:55324200-55331400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:55324400-55334000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:55324800-55331200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:55324800-55332400	Weak transcription	Fetal Lung	lung
21	chr14:55324800-55337000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:55325000-55331200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:55325000-55331200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:55325000-55332600	Weak transcription	Small Intestine	intestine
25	chr14:55325000-55337200	Weak transcription	Adipose Nuclei	Adipose
26	chr14:55325200-55333200	Weak transcription	Fetal Stomach	stomach
27	chr14:55325400-55332200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:55326200-55331600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:55326200-55333400	Weak transcription	GM12878-XiMat	blood
30	chr14:55326200-55336400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:55326400-55329000	Weak transcription	Fetal Intestine Small	intestine
32	chr14:55326400-55329600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:55326400-55330400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:55326400-55331200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:55326400-55332400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:55326400-55333200	Weak transcription	Lung	lung
37	chr14:55326400-55333200	Weak transcription	Spleen	Spleen
38	chr14:55326600-55332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:55326600-55336600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:55326800-55331400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:55327000-55332400	Weak transcription	Thymus	Thymus
42	chr14:55327000-55336000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:55327000-55336400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:55327000-55338200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:55327200-55328600	Weak transcription	Primary T cells from cord blood	blood
46	chr14:55327200-55329200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:55327200-55330200	Weak transcription	Liver	Liver
48	chr14:55327200-55331200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:55327200-55331200	Weak transcription	HepG2	liver
50	chr14:55327200-55336600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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