Variant report

Variant	rs12548062
Chromosome Location	chr8:117843924-117843925
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12548885	0.91[AMR][1000 genomes]
rs16888870	0.91[AMR][1000 genomes]
rs17811822	0.92[ASN][1000 genomes]
rs2921786	0.91[AMR][1000 genomes]
rs2921789	0.91[AMR][1000 genomes]
rs2921791	0.91[AMR][1000 genomes]
rs3020109	0.91[AMR][1000 genomes]
rs3020124	0.91[AMR][1000 genomes]
rs62510235	0.89[ASN][1000 genomes]
rs62510236	0.89[ASN][1000 genomes]
rs62512680	0.92[ASN][1000 genomes]
rs62512681	0.92[ASN][1000 genomes]
rs62512682	0.92[ASN][1000 genomes]
rs62512683	0.92[ASN][1000 genomes]
rs62512686	0.92[ASN][1000 genomes]
rs73308285	0.88[ASN][1000 genomes]
rs73308288	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1034015	chr8:117790928-117843979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 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	chr8:117839400-117844400	Weak transcription	Psoas Muscle	Psoas
2	chr8:117840600-117845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:117840800-117859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:117841000-117856800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:117841600-117845200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:117841600-117845400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:117842200-117845200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:117843400-117844600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:117843600-117844000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:117843600-117844400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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