Variant report

Variant	rs74075705
Chromosome Location	chr13:48246383-48246384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56218947	1.00[AMR][1000 genomes]
rs58244470	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60946066	1.00[AMR][1000 genomes]
rs61519216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7335808	1.00[AMR][1000 genomes]
rs74073761	1.00[AMR][1000 genomes]
rs74073762	1.00[AMR][1000 genomes]
rs74073763	1.00[AMR][1000 genomes]
rs74073779	1.00[AMR][1000 genomes]
rs7988264	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832600	chr13:48183118-48341417	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv900066	chr13:48234112-48292845	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48245400-48246400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr13:48245400-48248000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:48245600-48249600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:48245800-48248000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr13:48245800-48248400	Enhancers	Hela-S3	cervix
6	chr13:48246000-48246400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:48246000-48246400	Enhancers	NHLF	lung
8	chr13:48246000-48246800	Enhancers	Fetal Stomach	stomach
9	chr13:48246000-48247200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:48246000-48247800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:48246000-48248000	Enhancers	HSMMtube	muscle
12	chr13:48246200-48246400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:48246200-48246600	Enhancers	Fetal Brain Male	brain
14	chr13:48246200-48248000	Enhancers	NHDF-Ad	bronchial

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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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