Variant report

Variant	rs7990489
Chromosome Location	chr13:80447951-80447952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1119379	1.00[AMR][1000 genomes]
rs2095466	1.00[AMR][1000 genomes]
rs2105044	1.00[AMR][1000 genomes]
rs4885663	1.00[AMR][1000 genomes]
rs58845200	1.00[AMR][1000 genomes]
rs61596567	1.00[AMR][1000 genomes]
rs6563134	1.00[AMR][1000 genomes]
rs7332414	1.00[AMR][1000 genomes]
rs9530961	1.00[AMR][1000 genomes]
rs9545199	1.00[AMR][1000 genomes]
rs986832	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048990	chr13:80419496-80456454	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv1044254	chr13:80419496-80457686	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80442000-80448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:80444000-80448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:80444800-80448600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:80444800-80448600	Weak transcription	Fetal Brain Male	brain
5	chr13:80444800-80448600	Weak transcription	NHEK	skin
6	chr13:80445000-80448600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:80445400-80448600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:80445400-80448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:80445600-80448600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:80445600-80448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:80447000-80449400	Enhancers	Fetal Thymus	thymus
12	chr13:80447400-80448400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:80447400-80448800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:80447600-80448600	Weak transcription	Thymus	Thymus

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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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