Variant report

Variant	rs13010493
Chromosome Location	chr2:67123397-67123398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1126147	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2861285	0.83[AFR][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	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874247	chr2:67105342-67141322	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2762259	chr2:67109728-67165987	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67112800-67124200	Weak transcription	Pancreas	Pancrea
2	chr2:67116200-67125200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:67117200-67123400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:67117200-67123800	Weak transcription	NHDF-Ad	bronchial
5	chr2:67117200-67124000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:67117200-67124200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:67117200-67124200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:67117600-67123800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:67118000-67123600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:67121800-67124200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:67122600-67124800	Enhancers	Fetal Heart	heart
12	chr2:67123000-67125800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:67123200-67123600	Enhancers	Fetal Kidney	kidney
14	chr2:67123200-67124600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:67123200-67125800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:67123200-67126200	Enhancers	Fetal Lung	lung

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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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