Variant report

Variant	rs1742494
Chromosome Location	chr14:69336393-69336394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10139065	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139069	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151103	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274939	0.83[ASN][1000 genomes]
rs1274940	0.82[ASN][1000 genomes]
rs1274941	0.82[ASN][1000 genomes]
rs1274942	0.82[ASN][1000 genomes]
rs1274943	0.82[ASN][1000 genomes]
rs1274944	0.82[ASN][1000 genomes]
rs1475035	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1742493	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1742495	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1742496	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1742497	0.80[ASN][1000 genomes]
rs1742498	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1742499	0.86[ASN][1000 genomes]
rs1742500	0.86[ASN][1000 genomes]
rs1742886	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1742890	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs393673	0.86[ASN][1000 genomes]
rs412638	0.86[ASN][1000 genomes]
rs41285480	0.87[ASN][1000 genomes]
rs424806	0.86[ASN][1000 genomes]
rs4312253	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs435205	0.85[ASN][1000 genomes]
rs440689	0.86[ASN][1000 genomes]
rs441983	0.85[ASN][1000 genomes]
rs445323	0.86[ASN][1000 genomes]
rs445863	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs453964	0.85[ASN][1000 genomes]
rs4902661	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902662	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61987505	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573861	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149334	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149376	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7149938	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149956	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7401911	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788535	0.91[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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69310800-69336400	Weak transcription	NHLF	lung
2	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
3	chr14:69321200-69338000	Weak transcription	Gastric	stomach
4	chr14:69322400-69336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:69323800-69337800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:69324800-69338600	Weak transcription	HepG2	liver
7	chr14:69328200-69336600	Weak transcription	HMEC	breast
8	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
9	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
11	chr14:69330200-69338000	Weak transcription	Hela-S3	cervix
12	chr14:69330200-69338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:69330200-69348200	Weak transcription	K562	blood
14	chr14:69331200-69338200	Weak transcription	Colonic Mucosa	Colon
15	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:69331400-69344600	Weak transcription	Brain Angular Gyrus	brain
17	chr14:69332600-69336600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:69332600-69337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:69332800-69336400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:69332800-69336400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:69332800-69336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:69332800-69336400	Weak transcription	HSMMtube	muscle
23	chr14:69332800-69336400	Weak transcription	Osteobl	bone
24	chr14:69332800-69336600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:69332800-69336800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:69332800-69337600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:69332800-69337600	Weak transcription	Fetal Intestine Small	intestine
28	chr14:69332800-69337600	Weak transcription	Fetal Stomach	stomach
29	chr14:69332800-69337800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:69332800-69337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:69332800-69337800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:69332800-69337800	Weak transcription	A549	lung
33	chr14:69332800-69338000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:69332800-69338000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:69332800-69338000	Weak transcription	Liver	Liver
36	chr14:69332800-69338000	Weak transcription	HUVEC	blood vessel
37	chr14:69332800-69338000	Weak transcription	NHEK	skin
38	chr14:69332800-69338200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:69332800-69338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:69332800-69338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:69332800-69338200	Weak transcription	Esophagus	oesophagus
42	chr14:69332800-69338600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:69333000-69336400	Weak transcription	Primary T cells from cord blood	blood
44	chr14:69333000-69338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:69333000-69338400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:69333200-69337400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr14:69333200-69337600	Weak transcription	Aorta	Aorta
48	chr14:69333400-69336400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:69333400-69337600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:69333400-69337600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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