Variant report

Variant	rs2057500
Chromosome Location	chr14:25412950-25412951
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10132498	0.93[CEU][hapmap]
rs10136888	0.93[CEU][hapmap]
rs10145291	0.93[CEU][hapmap]
rs10150527	0.93[CEU][hapmap]
rs10150946	0.93[CEU][hapmap]
rs10162405	0.93[CEU][hapmap]
rs10162424	0.93[CEU][hapmap]
rs10162461	0.93[CEU][hapmap]
rs12101204	0.93[CEU][hapmap]
rs12886877	0.92[CEU][hapmap]
rs12893349	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17109333	0.93[CEU][hapmap]
rs2146915	0.89[CHB][hapmap]
rs2332460	0.94[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.97[ASN][1000 genomes]
rs28466581	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981565	0.90[CHB][hapmap]
rs4983036	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4983039	0.89[CHB][hapmap]
rs6650491	0.93[CEU][hapmap]
rs6650513	0.93[CEU][hapmap]
rs6650515	0.93[CEU][hapmap]
rs7157671	0.89[CHB][hapmap]
rs9285592	0.93[CEU][hapmap]
rs9323571	0.93[CEU][hapmap]
rs9323572	0.93[CEU][hapmap]
rs9323573	0.93[CEU][hapmap]
rs9323575	0.93[CEU][hapmap]
rs9323576	0.93[CEU][hapmap]
rs964109	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671254	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9989227	0.93[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25396600-25415800	Weak transcription	Fetal Brain Male	brain
2	chr14:25399400-25413800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:25399800-25413400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:25399800-25413600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:25407400-25413200	Weak transcription	Brain Anterior Caudate	brain
6	chr14:25410000-25414200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:25410400-25413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:25410400-25413600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:25410600-25413000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:25410600-25414200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:25410800-25414200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:25412000-25413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:25412000-25413600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:25412000-25413800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:25412000-25417600	Weak transcription	HepG2	liver
16	chr14:25412200-25413200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:25412400-25413400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:25412400-25417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:25412600-25413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:25412600-25413600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:25412600-25413600	Weak transcription	Brain Angular Gyrus	brain
22	chr14:25412600-25413600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:25412600-25413600	Weak transcription	Brain Substantia Nigra	brain
24	chr14:25412600-25413600	Weak transcription	Pancreas	Pancrea
25	chr14:25412600-25414200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:25412600-25414200	Enhancers	Brain Hippocampus Middle	brain
27	chr14:25412600-25417600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:25412600-25422200	Weak transcription	Fetal Lung	lung
29	chr14:25412600-25422200	Weak transcription	Lung	lung
30	chr14:25412600-25422400	Weak transcription	Right Ventricle	heart
31	chr14:25412600-25423600	Weak transcription	Right Atrium	heart
32	chr14:25412600-25426600	Weak transcription	Fetal Intestine Small	intestine
33	chr14:25412600-25426800	Weak transcription	Fetal Intestine Large	intestine
34	chr14:25412800-25413000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:25412800-25413200	Weak transcription	Fetal Thymus	thymus
36	chr14:25412800-25413200	Weak transcription	Left Ventricle	heart
37	chr14:25412800-25413800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:25412800-25417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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