Variant report

Variant	rs11573812
Chromosome Location	chr8:119963063-119963064
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11573806	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573808	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573813	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573852	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11573900	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs11573902	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs16891771	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891776	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833877	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7840679	1.00[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers 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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119953400-119963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:119960600-119963800	Active TSS	Right Ventricle	heart
3	chr8:119960600-119964800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:119960600-119965000	Active TSS	Aorta	Aorta
5	chr8:119960800-119963600	Weak transcription	Brain Anterior Caudate	brain
6	chr8:119960800-119963600	Weak transcription	Fetal Brain Male	brain
7	chr8:119961000-119963600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:119961000-119963600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:119961000-119963800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:119961000-119965400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:119961200-119963400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:119961200-119963600	Weak transcription	Fetal Brain Female	brain
13	chr8:119961200-119964800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:119961400-119963200	Weak transcription	Adipose Nuclei	Adipose
15	chr8:119961600-119963200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:119961600-119963600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:119961600-119963800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:119961600-119963800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:119961600-119964600	Active TSS	HSMMtube	muscle
20	chr8:119961600-119965200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:119961800-119963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:119961800-119963600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:119962000-119963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:119962000-119964600	Active TSS	NHLF	lung
25	chr8:119962200-119964600	Active TSS	Osteobl	bone
26	chr8:119962200-119964800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:119962200-119964800	Active TSS	NHDF-Ad	bronchial
28	chr8:119962200-119965400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:119962400-119963400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:119962400-119963800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:119962600-119964400	Active TSS	NH-A	brain
32	chr8:119962600-119964600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:119962600-119964600	Active TSS	Liver	Liver
34	chr8:119962600-119964800	Active TSS	Fetal Intestine Large	intestine
35	chr8:119962600-119964800	Active TSS	Fetal Intestine Small	intestine
36	chr8:119962600-119965600	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr8:119963000-119963200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:119963000-119963400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr8:119963000-119963400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr8:119963000-119963600	Active TSS	Brain Cingulate Gyrus	brain
41	chr8:119963000-119963600	Enhancers	Fetal Lung	lung
42	chr8:119963000-119964000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr8:119963000-119964600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:119963000-119964600	Active TSS	Brain Hippocampus Middle	brain
45	chr8:119963000-119965000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr8:119963000-119965000	Active TSS	Rectal Mucosa Donor 31	rectum

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