Variant report

Variant	rs56082148
Chromosome Location	chr1:193308683-193308684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4657853	1.00[AMR][1000 genomes]
rs6685973	1.00[AMR][1000 genomes]
rs74130944	0.83[AFR][1000 genomes]
rs74130950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538408	1.00[AMR][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	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193306800-193309000	Enhancers	Osteobl	bone
3	chr1:193307600-193310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:193308000-193310400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:193308000-193310400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:193308000-193317400	Weak transcription	HSMM	muscle
7	chr1:193308200-193310600	Weak transcription	NHDF-Ad	bronchial
8	chr1:193308400-193309000	Enhancers	HUVEC	blood vessel
9	chr1:193308400-193309800	Enhancers	Fetal Intestine Large	intestine
10	chr1:193308400-193311600	Enhancers	Fetal Intestine Small	intestine
11	chr1:193308600-193308800	Weak transcription	HSMMtube	muscle

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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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