Variant report

Variant	rs4612942
Chromosome Location	chr13:54335255-54335256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1020769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1157110	1.00[AMR][1000 genomes]
rs1343524	1.00[AMR][1000 genomes]
rs1343525	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1343526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2785816	0.83[AMR][1000 genomes]
rs2806725	0.83[AMR][1000 genomes]
rs6561742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986080	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7994751	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs922012	1.00[AMR][1000 genomes]
rs9316666	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9536556	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3424153	chr13:54335000-54354115	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54335000-54335800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:54335200-54335600	Enhancers	Spleen	Spleen

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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