Variant report

Variant	rs12376253
Chromosome Location	chr9:21568120-21568121
allele	A/T
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:9)

rs_ID	r²[population]
rs10965067	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10965068	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10965069	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10965073	0.93[EUR][1000 genomes]
rs60506615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7026552	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72703473	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72703475	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs998188	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][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	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
2	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
3	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21564600-21570400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:21565200-21568600	Flanking Active TSS	A549	lung
3	chr9:21565600-21576000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:21565800-21568200	Enhancers	NHEK	skin
5	chr9:21565800-21570400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:21565800-21570400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:21566400-21570200	Weak transcription	Hela-S3	cervix
8	chr9:21566400-21570200	Weak transcription	HMEC	breast
9	chr9:21566600-21570600	Weak transcription	NH-A	brain
10	chr9:21567200-21570400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:21567200-21570400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:21567400-21570400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:21567800-21568200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr9:21568000-21568200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:21568000-21570600	Weak transcription	NHDF-Ad	bronchial

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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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