Variant report

Variant	rs72748129
Chromosome Location	chr9:118137779-118137780
allele	C/G/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:16)

rs_ID	r²[population]
rs41308904	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55806800	1.00[AFR][1000 genomes]
rs56329333	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748108	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs72748116	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72748118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72748121	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72748138	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72748141	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72748142	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72748202	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72750103	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72750105	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72750106	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72750109	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72757309	1.00[AFR][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	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
3	esv2761552	chr9:118113846-118157488	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118130600-118142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:118134400-118138200	Enhancers	HMEC	breast
3	chr9:118135800-118137800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:118135800-118137800	Enhancers	NHEK	skin
5	chr9:118136600-118142800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:118137400-118144800	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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