Variant report

Variant	rs67867117
Chromosome Location	chr14:63692115-63692116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10150375	0.98[EUR][1000 genomes]
rs11625202	0.89[EUR][1000 genomes]
rs11847980	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12893195	0.85[EUR][1000 genomes]
rs17100876	0.98[EUR][1000 genomes]
rs17765231	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17765297	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17765362	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2356159	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28696286	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55892114	0.82[EUR][1000 genomes]
rs57466787	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57700441	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58576344	0.92[EUR][1000 genomes]
rs67162923	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67212716	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67551358	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67785117	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158866	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72712555	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712563	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72712564	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs761549	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012663	0.98[EUR][1000 genomes]
rs9323434	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63672000-63717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63676200-63707600	Weak transcription	Aorta	Aorta
3	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:63679400-63717000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:63681600-63694600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:63688600-63696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:63690400-63692400	Weak transcription	HUVEC	blood vessel
8	chr14:63691200-63692200	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:63691200-63694600	Weak transcription	Left Ventricle	heart
10	chr14:63691200-63695000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:63691200-63716800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:63691400-63694600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:63691400-63712800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:63691600-63694400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:63691600-63694400	Weak transcription	NH-A	brain
16	chr14:63691600-63695000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:63691600-63698800	Weak transcription	Fetal Heart	heart
18	chr14:63691600-63705800	Weak transcription	Fetal Stomach	stomach
19	chr14:63691600-63712400	Weak transcription	Ovary	ovary
20	chr14:63691800-63694400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:63692000-63692200	Enhancers	Fetal Lung	lung

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