Variant report

Variant	rs1283716
Chromosome Location	chr8:108467689-108467690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1283675	0.82[ASN][1000 genomes]
rs1283676	0.80[ASN][1000 genomes]
rs1283677	0.80[ASN][1000 genomes]
rs1283678	0.80[ASN][1000 genomes]
rs1283679	0.80[ASN][1000 genomes]
rs1283680	0.80[ASN][1000 genomes]
rs1283697	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1283699	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1283712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283727	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1298936	0.80[ASN][1000 genomes]
rs1654750	0.80[ASN][1000 genomes]
rs1654751	0.80[ASN][1000 genomes]
rs1672165	0.80[ASN][1000 genomes]
rs1672166	0.80[ASN][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	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108450400-108469600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:108450400-108469800	Weak transcription	Psoas Muscle	Psoas
3	chr8:108452400-108468000	Weak transcription	Aorta	Aorta
4	chr8:108462000-108469800	Weak transcription	HUVEC	blood vessel
5	chr8:108466400-108468000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:108466400-108468000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:108466600-108469400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:108466800-108468000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:108466800-108469600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:108467000-108468000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:108467000-108468000	Enhancers	NHLF	lung
12	chr8:108467000-108468000	Enhancers	Osteobl	bone
13	chr8:108467000-108468400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:108467000-108468800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:108467000-108469600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:108467200-108468000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:108467200-108468000	Enhancers	Ovary	ovary
18	chr8:108467200-108468200	Enhancers	HSMMtube	muscle
19	chr8:108467200-108468600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:108467200-108468600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:108467200-108468800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:108467200-108468800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:108467200-108469600	Enhancers	Fetal Lung	lung
24	chr8:108467200-108470200	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:108467200-108473200	Enhancers	NHDF-Ad	bronchial
26	chr8:108467400-108467800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:108467400-108468000	Weak transcription	Fetal Kidney	kidney
28	chr8:108467400-108474600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:108467600-108467800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:108467600-108468000	Weak transcription	Adipose Nuclei	Adipose
31	chr8:108467600-108468200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:108467600-108468400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:108467600-108468600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:108467600-108469600	Enhancers	Rectal Smooth Muscle	rectum

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