Variant report

Variant	rs2749079
Chromosome Location	chr6:101987825-101987826
allele	C/T
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:9)

rs_ID	r²[population]
rs1040711	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2023169	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2474464	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2518216	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518307	0.95[ASN][1000 genomes]
rs2749072	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2749074	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2749077	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2749080	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538392	chr6:101938381-102148360	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101983200-101991400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:101985600-101988400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:101986000-101988600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:101986000-101991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:101986600-101993200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:101987200-101988200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:101987200-101988200	Enhancers	HMEC	breast
8	chr6:101987200-101988200	Enhancers	NH-A	brain
9	chr6:101987200-101988400	Enhancers	NHEK	skin
10	chr6:101987400-101988000	Enhancers	HSMM	muscle
11	chr6:101987400-101988000	Enhancers	HSMMtube	muscle
12	chr6:101987400-101988200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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