Variant report

Variant	rs55843607
Chromosome Location	chr8:99339490-99339491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28368548	1.00[EUR][1000 genomes]
rs4593514	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59987702	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664857	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664858	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664865	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664867	0.90[AMR][1000 genomes];1.00[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99334800-99339600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:99335400-99342400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:99336200-99339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:99336400-99341400	Weak transcription	Fetal Lung	lung
5	chr8:99336400-99343000	Enhancers	NHDF-Ad	bronchial
6	chr8:99336400-99343200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:99336400-99343400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:99336800-99340400	Enhancers	Osteobl	bone
9	chr8:99337000-99339800	Enhancers	HSMM	muscle
10	chr8:99337000-99340000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:99337000-99341600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:99337800-99340800	Enhancers	NHLF	lung
13	chr8:99337800-99341000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:99339200-99340000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:99339200-99344200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:99339200-99348000	Weak transcription	HSMMtube	muscle
17	chr8:99339400-99340000	Enhancers	Esophagus	oesophagus

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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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