Variant report

Variant	rs1461056
Chromosome Location	chr12:74798164-74798165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10785109	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10879765	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10879767	0.86[ASN][1000 genomes]
rs10879770	0.86[ASN][1000 genomes]
rs11180048	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11180058	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308084	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs60637718	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][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	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74796600-74798200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:74796600-74807200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:74796600-74807400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:74796800-74802400	Weak transcription	A549	lung
5	chr12:74797600-74798200	Enhancers	Brain Angular Gyrus	brain
6	chr12:74797600-74798200	Enhancers	Brain Substantia Nigra	brain
7	chr12:74798000-74798200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr12:74798000-74798400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:74798000-74798400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:74798000-74798800	Enhancers	Brain Hippocampus Middle	brain

Quick Search:

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

what's new

Quick links