Variant report

Variant	rs12232232
Chromosome Location	chr14:25383373-25383374
allele	C/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:37)

rs_ID	r²[population]
rs10132498	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs10136888	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10145291	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10150527	0.94[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs10150946	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10162292	0.96[ASN][1000 genomes]
rs10162405	0.94[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10162420	0.96[ASN][1000 genomes]
rs10162424	0.94[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10162457	0.96[ASN][1000 genomes]
rs10162461	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs12101204	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs12886877	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17109333	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs1957764	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416145	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28430842	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28544091	0.96[ASN][1000 genomes]
rs28668993	0.83[EUR][1000 genomes]
rs34298539	0.87[ASN][1000 genomes]
rs35669399	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs36053777	0.97[ASN][1000 genomes]
rs4983036	0.90[GIH][hapmap]
rs6650491	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6650513	0.94[CHB][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6650514	0.96[ASN][1000 genomes]
rs6650515	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs71411760	0.90[ASN][1000 genomes]
rs9285592	0.94[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9323571	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9323572	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9323573	0.81[ASW][hapmap];0.94[CHB][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.80[YRI][hapmap];0.97[ASN][1000 genomes]
rs9323574	0.96[ASN][1000 genomes]
rs9323575	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9323576	0.94[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9783658	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9989227	0.94[CHB][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1041445	chr14:25326692-25388290	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25379400-25397800	Weak transcription	Right Ventricle	heart
2	chr14:25381000-25385400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:25381000-25389800	Weak transcription	Left Ventricle	heart
4	chr14:25381200-25383600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:25381200-25384000	Enhancers	HSMM	muscle
6	chr14:25381200-25384600	Enhancers	Brain Angular Gyrus	brain
7	chr14:25381200-25384800	Enhancers	Brain Anterior Caudate	brain
8	chr14:25381200-25385200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:25381200-25385200	Weak transcription	A549	lung
10	chr14:25381200-25385400	Weak transcription	Stomach Mucosa	stomach
11	chr14:25381200-25387800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:25381200-25388200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:25381200-25389800	Weak transcription	Pancreas	Pancrea
14	chr14:25381400-25383800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:25381400-25383800	Weak transcription	HSMMtube	muscle
16	chr14:25381400-25384000	Weak transcription	HepG2	liver
17	chr14:25381400-25385600	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:25381400-25397800	Weak transcription	Fetal Intestine Small	intestine
19	chr14:25382000-25383400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:25382200-25384600	Enhancers	Brain Cingulate Gyrus	brain
21	chr14:25382200-25388200	Enhancers	Brain Substantia Nigra	brain
22	chr14:25382600-25383800	Weak transcription	Fetal Lung	lung
23	chr14:25382800-25385200	Enhancers	Brain Hippocampus Middle	brain
24	chr14:25382800-25385200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:25383000-25383400	Enhancers	Fetal Heart	heart
26	chr14:25383200-25383400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:25383200-25385400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links