Variant report

Variant	rs73089079
Chromosome Location	chr12:26356406-26356407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12311177	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34624361	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66559105	0.94[EUR][1000 genomes]
rs73072409	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73090814	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7955911	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26349600-26358000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:26349800-26356600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:26349800-26357400	Weak transcription	Ovary	ovary
4	chr12:26349800-26358000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:26350600-26357600	Weak transcription	NHLF	lung
6	chr12:26351000-26357800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:26351200-26357400	Weak transcription	Right Ventricle	heart
8	chr12:26351400-26358000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:26351600-26356600	Weak transcription	Aorta	Aorta
10	chr12:26352000-26356600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:26352000-26357400	Weak transcription	Left Ventricle	heart
12	chr12:26352000-26357800	Weak transcription	Small Intestine	intestine
13	chr12:26352000-26358000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:26352200-26356600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:26352200-26357800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:26352200-26365200	Weak transcription	HSMMtube	muscle
17	chr12:26352400-26356600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:26352400-26357000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:26352600-26357000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:26352600-26357600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:26352600-26358000	Weak transcription	Osteobl	bone
22	chr12:26352800-26357400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:26352800-26358000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:26353000-26357200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:26353000-26357400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:26353600-26357600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:26354600-26357400	Weak transcription	Brain Angular Gyrus	brain
28	chr12:26355400-26359200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:26355800-26357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:26356200-26357400	Enhancers	Brain Substantia Nigra	brain
31	chr12:26356400-26356600	Enhancers	Brain Anterior Caudate	brain
32	chr12:26356400-26356600	Enhancers	Fetal Heart	heart
33	chr12:26356400-26357600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:26356400-26357800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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