Variant report

Variant	rs12954558
Chromosome Location	chr18:8892245-8892246
allele	A/G
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]
rs11873544	0.92[ASN][1000 genomes]
rs12955548	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12956691	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12962881	1.00[EUR][1000 genomes]
rs12968320	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12970613	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34209805	1.00[EUR][1000 genomes]
rs34446906	0.92[ASN][1000 genomes]
rs34753817	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35549057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36051372	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71362047	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237559	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8889400-8892400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr18:8889400-8892600	Enhancers	NHDF-Ad	bronchial
3	chr18:8891200-8892600	Enhancers	NHLF	lung
4	chr18:8891400-8893400	Weak transcription	Colon Smooth Muscle	Colon
5	chr18:8891600-8893200	Enhancers	K562	blood
6	chr18:8891600-8894000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:8891600-8894600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:8891600-8895000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:8891600-8895200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:8891600-8895400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:8891800-8892400	Enhancers	A549	lung
12	chr18:8891800-8894600	Weak transcription	HSMMtube	muscle
13	chr18:8891800-8895000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:8891800-8896000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:8891800-8896000	Weak transcription	HMEC	breast
16	chr18:8891800-8903600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:8892200-8892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:8892200-8894400	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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