Variant report

Variant	rs59465524
Chromosome Location	chr14:39542610-39542611
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1002193	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10129762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10131369	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10134166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10136637	0.82[AFR][1000 genomes]
rs10139666	0.85[EUR][1000 genomes]
rs10140763	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10141079	0.82[AMR][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10142117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10142350	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10145417	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10145476	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10146176	0.83[ASN][1000 genomes]
rs10148712	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10150756	0.82[AMR][1000 genomes]
rs10151124	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10483543	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1050136	0.84[ASN][1000 genomes]
rs11622731	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11622968	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845793	0.82[AMR][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11849209	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11850579	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11851680	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12323565	0.82[AMR][1000 genomes]
rs12587208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13021	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17092044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092050	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17108596	0.82[AMR][1000 genomes]
rs17108696	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17108948	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2025061	0.82[AMR][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2144529	0.81[ASN][1000 genomes]
rs2144530	0.90[ASN][1000 genomes]
rs2180216	0.81[ASN][1000 genomes]
rs2273592	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	0.83[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28501673	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28583114	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28666016	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28821293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45622837	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55672305	0.82[AMR][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57326310	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57482489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58601678	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	0.83[ASN][1000 genomes]
rs74048711	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs761805	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8018720	0.90[ASN][1000 genomes]
rs8019396	0.82[AMR][1000 genomes]
rs8022510	0.88[ASN][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs993675	0.82[AMR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:39526000-39557200	Strong transcription	Osteobl	bone
3	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:39526800-39552600	Weak transcription	Gastric	stomach
5	chr14:39526800-39553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:39526800-39554000	Weak transcription	Aorta	Aorta
7	chr14:39526800-39554000	Weak transcription	Esophagus	oesophagus
8	chr14:39526800-39554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:39526800-39554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:39527000-39554200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:39527400-39549000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:39527600-39554200	Weak transcription	K562	blood
15	chr14:39528000-39547800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
17	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:39528200-39545800	Strong transcription	Dnd41	blood
19	chr14:39528200-39548800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:39529800-39554200	Weak transcription	Fetal Brain Male	brain
25	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
26	chr14:39530600-39552000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
28	chr14:39531400-39545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:39531600-39543000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:39534000-39543200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:39534200-39545800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr14:39534600-39554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:39534800-39547600	Weak transcription	Hela-S3	cervix
37	chr14:39534800-39553600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:39535000-39550000	Weak transcription	NHLF	lung
39	chr14:39535400-39553600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:39536000-39543000	Weak transcription	Colonic Mucosa	Colon
41	chr14:39536000-39554200	Weak transcription	Pancreas	Pancrea
42	chr14:39537600-39545800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:39538000-39543800	Strong transcription	GM12878-XiMat	blood
44	chr14:39538200-39543600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
47	chr14:39538400-39543400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:39538400-39545200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:39538400-39547400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:39538400-39547800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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