Variant report

Variant	rs7994751
Chromosome Location	chr13:54395979-54395980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1020769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1157110	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1343524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1343525	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1343526	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2785816	0.83[AMR][1000 genomes]
rs2806725	0.83[AMR][1000 genomes]
rs4612942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6561742	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986080	0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs922012	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9316666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9536556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044137	chr13:54124103-54521120	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv541777	chr13:54124103-54521120	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv34743	chr13:54313729-54424593	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757532	chr13:54333209-54421334	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759937	chr13:54333209-54421334	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv427931	chr13:54352943-54543848	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv826646	chr13:54355102-54423461	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv900092	chr13:54362624-54419426	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1048842	chr13:54381146-54401841	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54391600-54396400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:54395000-54396000	Enhancers	Fetal Heart	heart
3	chr13:54395200-54396600	Enhancers	Fetal Brain Male	brain
4	chr13:54395400-54396600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:54395600-54396200	Active TSS	Stomach Smooth Muscle	stomach
6	chr13:54395600-54396400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:54395800-54396000	Active TSS	Brain Substantia Nigra	brain
8	chr13:54395800-54396400	Active TSS	Brain Angular Gyrus	brain
9	chr13:54395800-54396400	Active TSS	Brain Anterior Caudate	brain
10	chr13:54395800-54396400	Active TSS	Brain Hippocampus Middle	brain
11	chr13:54395800-54396400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr13:54395800-54396600	Active TSS	Brain Cingulate Gyrus	brain
13	chr13:54395800-54396600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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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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