Variant report

Variant	rs12237165
Chromosome Location	chr9:79400055-79400056
allele	C/T
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:14)

rs_ID	r²[population]
rs10113868	1.00[ASN][1000 genomes]
rs10121266	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121299	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869819	1.00[ASN][1000 genomes]
rs10869820	1.00[ASN][1000 genomes]
rs12235152	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13293464	0.91[EUR][1000 genomes]
rs13295176	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13295975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35260044	0.85[EUR][1000 genomes]
rs35441661	0.87[EUR][1000 genomes]
rs35990857	0.87[EUR][1000 genomes]
rs3924629	1.00[ASN][1000 genomes]
rs4585807	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79371600-79400200	Weak transcription	HSMMtube	muscle
2	chr9:79377000-79408600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:79377200-79405200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:79388000-79401400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:79388200-79403400	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:79393400-79401800	Weak transcription	Brain Hippocampus Middle	brain
7	chr9:79393600-79401200	Weak transcription	Brain Substantia Nigra	brain
8	chr9:79393600-79423400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:79395200-79403400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:79396400-79402400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:79398800-79403000	Weak transcription	HSMM	muscle
12	chr9:79399000-79400800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:79399200-79401200	Weak transcription	Aorta	Aorta
14	chr9:79399400-79402800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:79399600-79400400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:79399800-79400800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:79400000-79400200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:79400000-79400800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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