Variant report

Variant	rs58783789
Chromosome Location	chr8:118812635-118812636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12675718	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17429964	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17439576	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17479145	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58783789	EXT1	cis	temporal cortex	BrainEAC

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118800000-118816400	Weak transcription	Brain Angular Gyrus	brain
2	chr8:118800200-118815800	Weak transcription	Esophagus	oesophagus
3	chr8:118800600-118822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:118802200-118821200	Strong transcription	NHDF-Ad	bronchial
6	chr8:118802400-118820400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:118804200-118813600	Strong transcription	NH-A	brain
8	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:118804200-118838000	Strong transcription	HSMM	muscle
10	chr8:118804400-118816400	Weak transcription	Spleen	Spleen
11	chr8:118804600-118816800	Weak transcription	Small Intestine	intestine
12	chr8:118804800-118815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:118804800-118815800	Weak transcription	Colonic Mucosa	Colon
14	chr8:118804800-118822400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:118805200-118814200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:118805200-118819400	Weak transcription	Thymus	Thymus
17	chr8:118805400-118814000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:118805400-118821200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr8:118805400-118826000	Strong transcription	NHLF	lung
20	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:118805600-118849800	Strong transcription	Liver	Liver
22	chr8:118806000-118823200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:118806600-118815600	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:118806600-118816400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:118806600-118816400	Weak transcription	Brain Substantia Nigra	brain
26	chr8:118806600-118824800	Weak transcription	Right Ventricle	heart
27	chr8:118807400-118815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:118807600-118815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:118807800-118815400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:118807800-118816400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:118808200-118814800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:118808200-118815800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:118808200-118816400	Weak transcription	Psoas Muscle	Psoas
34	chr8:118808400-118813600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr8:118808400-118815200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:118808400-118819600	Strong transcription	HMEC	breast
37	chr8:118808400-118827000	Weak transcription	Hela-S3	cervix
38	chr8:118808600-118816400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
40	chr8:118808800-118813600	Strong transcription	Fetal Intestine Large	intestine
41	chr8:118808800-118816400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:118808800-118819400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:118808800-118822600	Strong transcription	Osteobl	bone
44	chr8:118809000-118813200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:118809000-118813800	Strong transcription	Primary T cells from cord blood	blood
46	chr8:118809000-118815600	Weak transcription	Fetal Brain Female	brain
47	chr8:118809000-118816200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:118809000-118819800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:118809000-118820200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr8:118809200-118813600	Strong transcription	NHEK	skin

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