Variant report

Variant	rs854338
Chromosome Location	chr14:25331081-25331082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10483289	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs1241584	0.86[EUR][1000 genomes]
rs1241585	0.85[EUR][1000 genomes]
rs1241586	0.86[EUR][1000 genomes]
rs1241587	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs1241589	0.86[EUR][1000 genomes]
rs1241590	0.86[EUR][1000 genomes]
rs1241591	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs1241592	0.86[EUR][1000 genomes]
rs1241593	0.87[EUR][1000 genomes]
rs1241595	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs1241596	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241597	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241599	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241600	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241601	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241602	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241603	0.87[EUR][1000 genomes]
rs1241604	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241606	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241607	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241609	0.87[EUR][1000 genomes]
rs1241610	0.84[CEU][hapmap]
rs1241611	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs1241612	0.83[CEU][hapmap]
rs1241614	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs1241646	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1241649	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs12878320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12879571	0.86[EUR][1000 genomes]
rs12879748	0.96[CEU][hapmap]
rs12879796	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs12880290	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs12884685	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs12888493	0.83[EUR][1000 genomes]
rs12888847	0.86[EUR][1000 genomes]
rs12888862	0.85[EUR][1000 genomes]
rs12888953	0.86[EUR][1000 genomes]
rs12889256	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs12889353	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs12894268	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs12894469	0.86[EUR][1000 genomes]
rs12895085	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs12895300	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs1841611	0.88[ASN][1000 genomes]
rs8005503	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs854320	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs854329	0.87[CEU][hapmap];0.89[AMR][1000 genomes]
rs854333	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854334	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854337	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs996271	0.86[EUR][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	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	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv901506	chr14:25295551-25377188	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1041445	chr14:25326692-25388290	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25314600-25333600	Weak transcription	Lung	lung
2	chr14:25317800-25344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:25319600-25344600	Weak transcription	NHDF-Ad	bronchial
4	chr14:25321600-25333600	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:25323600-25333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:25326400-25343600	Weak transcription	Gastric	stomach
7	chr14:25328400-25331200	Enhancers	Right Ventricle	heart
8	chr14:25329200-25340000	Weak transcription	Brain Anterior Caudate	brain
9	chr14:25329200-25341800	Weak transcription	Right Atrium	heart
10	chr14:25329600-25331200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:25329600-25331200	Enhancers	HSMM	muscle
12	chr14:25329800-25331400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:25330000-25331200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:25330000-25331200	Enhancers	NH-A	brain
15	chr14:25330200-25331200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:25330200-25331200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:25330200-25331200	Enhancers	Fetal Intestine Large	intestine
18	chr14:25330200-25331200	Enhancers	Fetal Intestine Small	intestine
19	chr14:25330200-25331200	Flanking Active TSS	NHEK	skin
20	chr14:25330200-25331400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:25330400-25331200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:25330400-25331200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:25330400-25331200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:25330400-25331200	Enhancers	Liver	Liver
25	chr14:25330400-25331200	Flanking Active TSS	Hela-S3	cervix
26	chr14:25330400-25332600	Enhancers	Stomach Mucosa	stomach
27	chr14:25330400-25334600	Enhancers	Fetal Thymus	thymus
28	chr14:25330600-25331400	Enhancers	Pancreas	Pancrea
29	chr14:25330800-25331200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:25330800-25331200	Weak transcription	Left Ventricle	heart
31	chr14:25330800-25332800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:25330800-25332800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:25330800-25333200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:25330800-25344000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:25331000-25332800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:25331000-25332800	Weak transcription	Fetal Lung	lung
37	chr14:25331000-25333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:25331000-25340000	Weak transcription	HepG2	liver
39	chr14:25331000-25343000	Weak transcription	Brain Angular Gyrus	brain
40	chr14:25331000-25343600	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:25331000-25349800	Weak transcription	Muscle Satellite Cultured Cells	--

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