Variant report

Variant	rs7153942
Chromosome Location	chr14:25479674-25479675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10150874	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483292	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11626966	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11844636	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17109498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17109509	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17109521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17109529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17109537	0.85[JPT][hapmap]
rs1952501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2225270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7149439	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8004569	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.96[ASN][1000 genomes]
rs8017234	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8018041	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

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	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
5	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
6	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
7	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25475200-25480800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:25476400-25485000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:25477200-25480200	Weak transcription	Adipose Nuclei	Adipose
4	chr14:25477200-25483400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:25477600-25480000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:25477600-25480000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:25477800-25479800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:25477800-25480000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:25477800-25480000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:25477800-25480000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:25477800-25480000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:25478200-25480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:25478400-25480000	Enhancers	Left Ventricle	heart
14	chr14:25478400-25480000	Enhancers	HepG2	liver
15	chr14:25478600-25480000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:25478600-25480000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:25478600-25480000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:25478600-25480000	Enhancers	Right Atrium	heart
19	chr14:25478600-25480800	Enhancers	Fetal Intestine Large	intestine
20	chr14:25478600-25480800	Enhancers	NHEK	skin
21	chr14:25478800-25479800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:25478800-25480000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:25478800-25480000	Enhancers	Brain Angular Gyrus	brain
24	chr14:25478800-25480000	Enhancers	Fetal Muscle Leg	muscle
25	chr14:25478800-25480000	Enhancers	NHLF	lung
26	chr14:25478800-25480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:25478800-25480800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr14:25478800-25481000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:25478800-25481000	Enhancers	Fetal Intestine Small	intestine
30	chr14:25479000-25480600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr14:25479000-25480800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:25479000-25480800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr14:25479200-25479800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:25479200-25479800	Enhancers	NH-A	brain
35	chr14:25479200-25480000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:25479200-25480200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:25479200-25480800	Enhancers	Fetal Heart	heart
38	chr14:25479200-25488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:25479400-25480000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:25479400-25480400	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:25479400-25480400	Enhancers	HSMM	muscle
42	chr14:25479400-25480600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:25479400-25480600	Enhancers	Hela-S3	cervix
44	chr14:25479400-25483400	Weak transcription	Pancreas	Pancrea
45	chr14:25479400-25483800	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:25479400-25483800	Weak transcription	Fetal Lung	lung
47	chr14:25479400-25508600	Weak transcription	Brain Anterior Caudate	brain
48	chr14:25479600-25479800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:25479600-25479800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr14:25479600-25479800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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