Variant report

Variant	rs2238250
Chromosome Location	chr14:72654109-72654110
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10483841	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845670	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11845720	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs12590752	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12880584	0.82[CHB][hapmap]
rs12882756	0.82[CHB][hapmap]
rs12883468	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12885156	0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12892913	0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12895540	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12896782	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs2238246	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238247	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs2238248	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238249	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238251	0.80[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238252	0.82[CHB][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2238253	0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2283410	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283411	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2283412	0.80[CEU][hapmap];0.90[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2283413	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2283414	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332802	0.82[CHB][hapmap]
rs34206394	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34233242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35304669	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144532	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7161011	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7494363	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72652400-72654200	Enhancers	Fetal Stomach	stomach
2	chr14:72652400-72655000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:72652400-72655000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:72652800-72654200	Enhancers	Brain Cingulate Gyrus	brain
5	chr14:72652800-72654200	Enhancers	Right Ventricle	heart
6	chr14:72652800-72654200	Enhancers	Stomach Smooth Muscle	stomach
7	chr14:72652800-72654400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr14:72652800-72655000	Enhancers	Fetal Lung	lung
9	chr14:72652800-72655200	Enhancers	Adipose Nuclei	Adipose
10	chr14:72652800-72655200	Enhancers	Aorta	Aorta
11	chr14:72653000-72654200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:72653000-72654200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:72653400-72654200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:72653400-72654200	Enhancers	Ovary	ovary
15	chr14:72653600-72654400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:72653600-72683000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:72653800-72654800	Weak transcription	Fetal Kidney	kidney
18	chr14:72653800-72655000	Weak transcription	Left Ventricle	heart
19	chr14:72653800-72655000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:72653800-72658800	Weak transcription	Right Atrium	heart

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