Variant report

Variant	rs60240141
Chromosome Location	chr13:49184297-49184298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4151632	0.83[AFR][1000 genomes]
rs57800689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479211	1.00[AFR][1000 genomes]
rs73479235	0.83[AFR][1000 genomes]
rs73479241	0.83[AFR][1000 genomes]
rs73479247	0.83[AFR][1000 genomes]
rs73479252	0.83[AFR][1000 genomes]
rs73486810	0.83[AFR][1000 genomes]
rs73486817	0.83[AFR][1000 genomes]
rs73486823	0.83[AFR][1000 genomes]
rs73486824	0.83[AFR][1000 genomes]
rs73491100	1.00[AFR][1000 genomes]
rs73492989	1.00[AFR][1000 genomes]
rs73492996	0.83[AFR][1000 genomes]
rs73493007	1.00[AFR][1000 genomes]
rs73493010	1.00[AFR][1000 genomes]
rs73493016	1.00[AFR][1000 genomes]
rs73493018	1.00[AFR][1000 genomes]
rs73493070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73495021	0.83[AFR][1000 genomes]
rs73495107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3495983	chr13:49181790-49222165	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3495984	chr13:49181790-49222165	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49183400-49189200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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