Variant report

Variant	rs58601122
Chromosome Location	chr9:79229572-79229573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12338534	1.00[AMR][1000 genomes]
rs12339267	1.00[AMR][1000 genomes]
rs12339310	1.00[AMR][1000 genomes]
rs12346990	1.00[AMR][1000 genomes]
rs34356194	1.00[AMR][1000 genomes]
rs73454165	1.00[AMR][1000 genomes]
rs73454167	1.00[AFR][1000 genomes];1.00[AMR][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv527438	chr9:79225328-79230242	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79221200-79229800	Weak transcription	GM12878-XiMat	blood
2	chr9:79223600-79230200	Weak transcription	Primary B cells from cord blood	blood
3	chr9:79224400-79229600	Enhancers	Stomach Mucosa	stomach
4	chr9:79224600-79239000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:79224600-79244400	Weak transcription	Brain Angular Gyrus	brain
6	chr9:79224800-79239600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr9:79225200-79239000	Weak transcription	Brain Anterior Caudate	brain
8	chr9:79225200-79239600	Weak transcription	Brain Substantia Nigra	brain
9	chr9:79225400-79233600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:79225400-79233600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:79225400-79239200	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:79225400-79244000	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:79225400-79265600	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:79225600-79229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:79225600-79229800	Weak transcription	Osteobl	bone
16	chr9:79225600-79232400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:79225600-79233400	Weak transcription	HSMMtube	muscle
18	chr9:79225800-79229600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:79225800-79232200	Weak transcription	Gastric	stomach
20	chr9:79225800-79232600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:79225800-79234000	Weak transcription	HSMM	muscle
22	chr9:79228000-79234000	Weak transcription	Aorta	Aorta
23	chr9:79228200-79229800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:79228400-79230000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr9:79228600-79230200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:79228800-79229600	Active TSS	Duodenum Mucosa	Duodenum
27	chr9:79228800-79230000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr9:79228800-79230200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr9:79228800-79230800	Enhancers	HepG2	liver
30	chr9:79229000-79230200	Enhancers	Primary hematopoietic stem cells	blood
31	chr9:79229000-79230200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:79229200-79229600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:79229200-79229800	Enhancers	Fetal Lung	lung
34	chr9:79229200-79229800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr9:79229200-79230600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:79229400-79229600	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr9:79229400-79229800	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr9:79229400-79230000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr9:79229400-79230000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:79229400-79230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:79229400-79230200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr9:79229400-79230600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr9:79229400-79232600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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