Variant report

Variant	rs7992976
Chromosome Location	chr13:110673285-110673286
allele	C/T
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:11)

rs_ID	r²[population]
rs2893357	0.92[EUR][1000 genomes]
rs4773108	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7320069	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7984800	0.86[EUR][1000 genomes]
rs9301424	0.85[EUR][1000 genomes]
rs9301426	0.86[EUR][1000 genomes]
rs9301427	0.86[EUR][1000 genomes]
rs9521572	0.85[EUR][1000 genomes]
rs9521573	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9521574	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9634476	0.86[EUR][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	nsv1049593	chr13:110615494-110725945	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1842097	chr13:110644990-110680944	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv901004	chr13:110653666-110682916	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110668200-110673400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr13:110670600-110675000	Weak transcription	Left Ventricle	heart
3	chr13:110670600-110675600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:110670600-110675600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:110670800-110675800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:110670800-110675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:110670800-110676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:110670800-110676000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:110671000-110674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:110671000-110676200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:110671000-110676200	Weak transcription	Osteobl	bone
12	chr13:110671000-110676400	Weak transcription	NH-A	brain
13	chr13:110671200-110674400	Weak transcription	HMEC	breast
14	chr13:110671200-110676000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:110672800-110673600	Enhancers	NHLF	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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