Variant report

Variant	rs12683070
Chromosome Location	chr9:17017772-17017773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57045730	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59836036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61195732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73414311	1.00[EUR][1000 genomes]
rs73414320	1.00[EUR][1000 genomes]
rs73414353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv613692	chr9:16963863-17070633	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv892656	chr9:17008137-17076367	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17014200-17018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:17014800-17018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:17015000-17018400	Weak transcription	NHEK	skin
4	chr9:17016200-17018200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:17016600-17020400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr9:17016800-17017800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:17016800-17019000	Enhancers	NHDF-Ad	bronchial
8	chr9:17017000-17018200	Weak transcription	Ovary	ovary
9	chr9:17017400-17017800	Enhancers	NH-A	brain
10	chr9:17017400-17017800	Enhancers	Osteobl	bone
11	chr9:17017600-17018000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:17017600-17018000	Enhancers	HSMM	muscle
13	chr9:17017600-17018200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:17017600-17018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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