Variant report

Variant	rs58726647
Chromosome Location	chr12:20744559-20744560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12301046	1.00[AMR][1000 genomes]
rs60644227	1.00[AMR][1000 genomes]
rs73233962	0.83[AMR][1000 genomes]
rs73233963	1.00[AMR][1000 genomes]
rs73233994	0.84[AFR][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20706800-20746400	Weak transcription	Fetal Intestine Small	intestine
2	chr12:20710400-20754800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:20726000-20745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:20741200-20745000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:20741400-20744600	Enhancers	Colon Smooth Muscle	Colon
6	chr12:20741400-20745400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:20741400-20746200	Weak transcription	Fetal Stomach	stomach
8	chr12:20741400-20752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:20741800-20745000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:20741800-20745000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:20742000-20745400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:20742600-20753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:20742800-20745600	Strong transcription	Hela-S3	cervix
14	chr12:20743200-20744600	Enhancers	Brain Angular Gyrus	brain
15	chr12:20743200-20744800	Enhancers	Brain Anterior Caudate	brain
16	chr12:20743200-20744800	Enhancers	Fetal Heart	heart
17	chr12:20743600-20744600	Enhancers	Brain Substantia Nigra	brain
18	chr12:20743600-20756000	Weak transcription	Left Ventricle	heart
19	chr12:20743800-20744600	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:20744000-20745000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:20744200-20744800	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:20744400-20745200	Enhancers	Stomach Smooth Muscle	stomach
23	chr12:20744400-20745600	Enhancers	A549	lung

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