Variant report

Variant	rs12313598
Chromosome Location	chr12:85380808-85380809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12578769	1.00[EUR][1000 genomes]
rs12578853	1.00[EUR][1000 genomes]
rs12579838	1.00[EUR][1000 genomes]
rs12581165	1.00[EUR][1000 genomes]
rs73377598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73377601	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73377602	1.00[EUR][1000 genomes];0.95[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	nsv899377	chr12:85157346-85629241	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv794	chr12:85355048-85389420	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85369600-85384400	Weak transcription	Hela-S3	cervix
2	chr12:85380000-85381000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:85380200-85381600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:85380400-85381000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:85380400-85381000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:85380400-85381600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:85380600-85381000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:85380800-85382800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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Input of quick search could be:

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

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