Variant report

Variant	rs9743466
Chromosome Location	chr14:39541147-39541148
allele	C/T
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:74)

rs_ID	r²[population]
rs1028591	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1040836	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883114	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883946	0.86[ASN][1000 genomes]
rs12887605	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12891260	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891438	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895569	0.84[ASN][1000 genomes]
rs12896384	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12896963	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897263	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897593	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17607605	0.86[ASN][1000 genomes]
rs17616347	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617123	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17617289	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17670531	0.86[ASN][1000 genomes]
rs17676972	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17679493	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1884383	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884386	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1950508	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960796	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2038359	0.81[EUR][1000 genomes]
rs2038360	0.81[EUR][1000 genomes]
rs2144526	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2144527	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273315	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2415533	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28364834	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34292075	0.86[ASN][1000 genomes]
rs34328534	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870044	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34896803	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34984050	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35006421	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35270180	0.81[EUR][1000 genomes]
rs35395604	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35412542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35502984	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35534904	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35729735	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35767652	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35873738	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35976812	0.80[EUR][1000 genomes]
rs4555056	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55902358	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55993688	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57550673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59881143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61338087	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571887	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67190795	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67968129	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7140282	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71407778	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143056	0.86[ASN][1000 genomes]
rs7143370	0.85[ASN][1000 genomes]
rs7144730	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145712	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151407	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7152392	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154223	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157774	0.81[EUR][1000 genomes]
rs743222	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8007028	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007240	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011244	0.81[EUR][1000 genomes]
rs8011494	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8017648	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8020013	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8020321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743749	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	chr14:39526800-39541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:39526800-39552600	Weak transcription	Gastric	stomach
6	chr14:39526800-39553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:39526800-39554000	Weak transcription	Aorta	Aorta
8	chr14:39526800-39554000	Weak transcription	Esophagus	oesophagus
9	chr14:39526800-39554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:39526800-39554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:39527000-39541800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:39527000-39554200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:39527400-39549000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:39527600-39554200	Weak transcription	K562	blood
17	chr14:39528000-39547800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
19	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:39528200-39545800	Strong transcription	Dnd41	blood
21	chr14:39528200-39548800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:39529800-39554200	Weak transcription	Fetal Brain Male	brain
27	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
28	chr14:39530600-39552000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:39531200-39541600	Weak transcription	Brain Substantia Nigra	brain
30	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
31	chr14:39531400-39545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:39531600-39543000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:39534000-39543200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:39534200-39541400	Weak transcription	Fetal Brain Female	brain
36	chr14:39534200-39545800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:39534600-39541600	Weak transcription	NHEK	skin
39	chr14:39534600-39554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:39534800-39541200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:39534800-39541600	Weak transcription	Fetal Kidney	kidney
43	chr14:39534800-39541800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:39534800-39547600	Weak transcription	Hela-S3	cervix
45	chr14:39534800-39553600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:39535000-39550000	Weak transcription	NHLF	lung
47	chr14:39535400-39553600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:39536000-39541800	Weak transcription	Fetal Lung	lung
49	chr14:39536000-39543000	Weak transcription	Colonic Mucosa	Colon
50	chr14:39536000-39554200	Weak transcription	Pancreas	Pancrea

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