Variant report

Variant	rs12283348
Chromosome Location	chr11:16389081-16389082
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:8)

rs_ID	r²[population]
rs10466417	1.00[AMR][1000 genomes]
rs11023935	1.00[AMR][1000 genomes]
rs12284936	1.00[AMR][1000 genomes]
rs12289034	1.00[AMR][1000 genomes]
rs12289169	1.00[AMR][1000 genomes]
rs16932973	0.85[ASN][1000 genomes]
rs16933000	1.00[AMR][1000 genomes]
rs60685248	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16385000-16389200	Enhancers	Fetal Intestine Large	intestine
2	chr11:16385000-16390200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:16387600-16389200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:16387800-16392000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:16388000-16391400	Weak transcription	K562	blood
6	chr11:16388200-16397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:16388200-16414200	Weak transcription	Fetal Intestine Small	intestine

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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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