Variant report

Variant	rs57405993
Chromosome Location	chr9:79440613-79440614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13293464	1.00[ASN][1000 genomes]
rs13297748	1.00[ASN][1000 genomes]
rs35260044	0.89[ASN][1000 genomes]
rs35441661	1.00[ASN][1000 genomes]
rs35990857	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758190	chr9:79365865-79673907	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759697	chr9:79365865-79673907	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79418400-79451000	Weak transcription	Fetal Stomach	stomach
2	chr9:79433200-79449800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:79433200-79449800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:79434200-79441800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:79434200-79449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:79434400-79442200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:79434400-79442600	Strong transcription	HSMM	muscle
8	chr9:79435600-79455800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:79436200-79441600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:79436200-79441800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:79436200-79442400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:79438200-79441600	Strong transcription	HSMMtube	muscle
13	chr9:79438400-79441600	Strong transcription	Aorta	Aorta
14	chr9:79439000-79441600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:79439400-79441400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:79439400-79441600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:79439400-79442600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:79439600-79441400	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr9:79439600-79441600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr9:79439600-79444200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:79439600-79449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:79439800-79441800	Strong transcription	Colon Smooth Muscle	Colon
23	chr9:79440200-79441000	Strong transcription	Brain Hippocampus Middle	brain
24	chr9:79440200-79441200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:79440200-79441200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr9:79440400-79440800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:79440400-79441400	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr9:79440400-79441600	Strong transcription	Brain Substantia Nigra	brain
29	chr9:79440400-79441800	Strong transcription	Brain Cingulate Gyrus	brain
30	chr9:79440600-79441200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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