Variant report

Variant	rs12146935
Chromosome Location	chr13:80033367-80033368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11549502	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11619563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11839222	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67435118	0.96[EUR][1000 genomes]
rs7321672	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73234690	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7983516	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7990729	0.94[AMR][1000 genomes]
rs9530928	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9530932	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9530933	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9545115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545119	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9545127	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9545130	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs958316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs983927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80020600-80034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:80026800-80033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:80030200-80033400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:80030400-80033400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:80030400-80033800	Weak transcription	HSMM	muscle
6	chr13:80032000-80034400	Enhancers	NHEK	skin
7	chr13:80032400-80033600	Weak transcription	Osteobl	bone
8	chr13:80032800-80033800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:80032800-80034200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:80033200-80033600	Weak transcription	NH-A	brain
11	chr13:80033200-80033800	Weak transcription	K562	blood

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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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