Variant report

Variant	rs7505998
Chromosome Location	chr18:8894780-8894781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12326283	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58257250	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73939576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73939577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73939583	1.00[EUR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8891600-8895000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr18:8891600-8895200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:8891600-8895400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:8891800-8895000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:8891800-8896000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8891800-8896000	Weak transcription	HMEC	breast
7	chr18:8891800-8903600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:8894000-8895000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr18:8894000-8895400	Enhancers	K562	blood
10	chr18:8894000-8896800	Enhancers	NHDF-Ad	bronchial
11	chr18:8894400-8895000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:8894400-8895000	Enhancers	Osteobl	bone
13	chr18:8894400-8896600	Enhancers	NHLF	lung
14	chr18:8894600-8894800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:8894600-8895000	Weak transcription	A549	lung
16	chr18:8894600-8895200	Enhancers	HSMMtube	muscle

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

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