Variant report

Variant	rs56256118
Chromosome Location	chr8:20136459-20136460
allele	C/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:15)

rs_ID	r²[population]
rs11985274	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11995187	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1542827	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57092179	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60124846	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60828034	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62499971	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62499972	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62499973	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62499974	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62499975	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62499976	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62499980	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62499981	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62499982	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
2	chr8:20129600-20139400	Weak transcription	NH-A	brain
3	chr8:20131000-20136600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:20132800-20138600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:20133000-20137600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:20133000-20137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:20133200-20136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:20133400-20137600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:20133400-20139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:20133600-20136800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:20133600-20139400	Weak transcription	HSMMtube	muscle
14	chr8:20134800-20136800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr8:20134800-20139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:20135000-20139200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:20135400-20137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:20135400-20137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:20135400-20137600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:20135400-20137600	Weak transcription	Fetal Brain Male	brain
21	chr8:20135400-20138600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:20135400-20139400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:20135400-20139400	Weak transcription	Osteobl	bone
24	chr8:20135400-20139600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:20135400-20145400	Weak transcription	Fetal Lung	lung
26	chr8:20135600-20137600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:20135600-20139200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:20135600-20139400	Weak transcription	Placenta	Placenta
29	chr8:20135800-20136600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:20135800-20137000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr8:20135800-20137600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:20135800-20137800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:20135800-20138000	Weak transcription	Fetal Brain Female	brain
34	chr8:20135800-20141200	Weak transcription	Right Atrium	heart
35	chr8:20136000-20136800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:20136000-20137400	Enhancers	Dnd41	blood
37	chr8:20136000-20137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:20136000-20138000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:20136000-20138000	Weak transcription	HSMM	muscle
40	chr8:20136000-20139200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:20136000-20139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:20136000-20139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:20136000-20139600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:20136000-20144000	Weak transcription	Esophagus	oesophagus
45	chr8:20136200-20137800	Weak transcription	Fetal Thymus	thymus
46	chr8:20136400-20136600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr8:20136400-20136600	Enhancers	Fetal Muscle Leg	muscle
48	chr8:20136400-20137600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:20136400-20137600	Enhancers	Brain Germinal Matrix	brain
50	chr8:20136400-20139200	Weak transcription	NHDF-Ad	bronchial

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