Variant report

Variant	rs12353019
Chromosome Location	chr9:79429026-79429027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10869818	0.80[ASN][1000 genomes]
rs10869827	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10869833	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10869834	0.80[AMR][1000 genomes]
rs10869835	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11145076	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11145080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11145085	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12376845	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1343394	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1539613	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1936292	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744812	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022561	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7039403	0.80[AMR][1000 genomes]
rs7046472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72732653	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7854027	0.80[ASN][1000 genomes]
rs7861202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867564	0.90[AMR][1000 genomes];0.86[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79413400-79431800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr9:79414000-79432200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:79418400-79451000	Weak transcription	Fetal Stomach	stomach
4	chr9:79420600-79431600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:79421000-79432000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:79423800-79431600	Weak transcription	NHDF-Ad	bronchial
7	chr9:79424000-79429600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:79424200-79431400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:79425800-79433000	Weak transcription	Brain Anterior Caudate	brain
10	chr9:79426000-79431200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:79426000-79431400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:79426200-79432000	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:79426200-79432400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:79426200-79432600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:79426200-79433200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:79426800-79432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:79427600-79431600	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:79427800-79432000	Weak transcription	Aorta	Aorta
19	chr9:79428400-79430400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:79428400-79432000	Weak transcription	Brain Substantia Nigra	brain
21	chr9:79428800-79430200	Strong transcription	HSMMtube	muscle
22	chr9:79429000-79432000	Strong transcription	HSMM	muscle

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