Variant report

Variant	rs72748108
Chromosome Location	chr9:118112679-118112680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55806800	1.00[AFR][1000 genomes]
rs56001232	0.81[ASN][1000 genomes]
rs56329333	0.80[ASN][1000 genomes]
rs72748116	0.93[ASN][1000 genomes]
rs72748118	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72748121	0.85[ASN][1000 genomes]
rs72748129	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs72748138	1.00[AFR][1000 genomes]
rs72748141	1.00[AFR][1000 genomes]
rs72750109	1.00[AFR][1000 genomes]
rs72757309	1.00[AFR][1000 genomes]
rs72764244	1.00[EUR][1000 genomes]
rs7467175	0.81[ASN][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	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr9:118110800-118122400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:118111200-118113400	Enhancers	NHLF	lung
3	chr9:118111200-118113400	Enhancers	Osteobl	bone
4	chr9:118111400-118112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:118111400-118112800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:118111400-118112800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:118112400-118113600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:118112400-118115400	Weak transcription	HMEC	breast
9	chr9:118112400-118115400	Weak transcription	NHEK	skin
10	chr9:118112400-118115800	Weak transcription	NHDF-Ad	bronchial
11	chr9:118112600-118113200	Enhancers	A549	lung
12	chr9:118112600-118113600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:118112600-118114400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:118112600-118115400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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