Variant report

Variant	rs56069388
Chromosome Location	chr8:95503360-95503361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12375388	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1866846	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2289455	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2289456	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2304766	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3762053	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4734280	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55638821	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55695806	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55895446	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56119282	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56306515	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56372696	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95488000-95503600	Weak transcription	NHEK	skin
2	chr8:95488200-95507800	Weak transcription	NHLF	lung
3	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:95493400-95503600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
7	chr8:95496800-95503600	Weak transcription	A549	lung
8	chr8:95497200-95510600	Weak transcription	Colonic Mucosa	Colon
9	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:95498200-95510200	Weak transcription	Gastric	stomach
11	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:95498800-95509400	Weak transcription	Pancreas	Pancrea
13	chr8:95498800-95512200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:95499000-95505200	Strong transcription	NHDF-Ad	bronchial
15	chr8:95499200-95505000	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:95499200-95511800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:95499200-95512200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:95499200-95512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:95499200-95514400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:95499200-95515200	Strong transcription	Fetal Thymus	thymus
21	chr8:95499200-95519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:95499200-95519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:95499400-95503600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:95499400-95505200	Strong transcription	Left Ventricle	heart
25	chr8:95499400-95506400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr8:95499400-95506400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr8:95499400-95508800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:95499400-95509200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:95499400-95509400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:95499400-95512200	Strong transcription	Adipose Nuclei	Adipose
31	chr8:95499400-95512200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:95499400-95512400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:95499400-95513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:95499400-95514200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:95499400-95514400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:95499400-95519000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:95499400-95519000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
39	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:95499600-95504200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr8:95499600-95504200	Strong transcription	Fetal Lung	lung
42	chr8:95499600-95504400	Strong transcription	Brain Substantia Nigra	brain
43	chr8:95499600-95505200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:95499600-95506400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr8:95499600-95509000	Strong transcription	Osteobl	bone
46	chr8:95499600-95514600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:95499600-95515400	Strong transcription	Liver	Liver
48	chr8:95499800-95509400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:95499800-95511000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr8:95499800-95512200	Strong transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links