Variant report

Variant	rs74086501
Chromosome Location	chr12:48411189-48411190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12297820	1.00[ASN][1000 genomes]
rs12721361	1.00[ASN][1000 genomes]
rs56345199	1.00[ASN][1000 genomes]
rs61917746	1.00[ASN][1000 genomes]
rs73301106	1.00[ASN][1000 genomes]
rs73301111	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48399400-48415000	Weak transcription	Right Atrium	heart
2	chr12:48407600-48411400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:48410200-48411400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48410200-48411600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:48410200-48411600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:48410400-48411200	Enhancers	HMEC	breast
7	chr12:48410400-48411400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:48410400-48411600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:48410600-48412400	Enhancers	Fetal Intestine Large	intestine
10	chr12:48410600-48414800	Weak transcription	Hela-S3	cervix
11	chr12:48410800-48412400	Enhancers	Fetal Intestine Small	intestine
12	chr12:48411000-48411200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:48411000-48411400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:48411000-48411400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:48411000-48411400	Flanking Active TSS	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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