Variant report

Variant	rs73486870
Chromosome Location	chr13:49120773-49120774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs4151632	1.00[AMR][1000 genomes]
rs73479233	1.00[AMR][1000 genomes]
rs73479235	1.00[AMR][1000 genomes]
rs73479241	1.00[AMR][1000 genomes]
rs73479247	1.00[AMR][1000 genomes]
rs73479252	1.00[AMR][1000 genomes]
rs73486810	1.00[AMR][1000 genomes]
rs73486817	1.00[AMR][1000 genomes]
rs73486823	1.00[AMR][1000 genomes]
rs73486824	1.00[AMR][1000 genomes]
rs73486829	1.00[AMR][1000 genomes]
rs73486850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492996	1.00[AMR][1000 genomes]
rs73495021	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49117200-49124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:49117400-49121800	Weak transcription	Liver	Liver
3	chr13:49117600-49123200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:49118400-49124000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:49118800-49121200	Enhancers	HepG2	liver
6	chr13:49119600-49126000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:49120400-49120800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:49120600-49121000	Enhancers	Monocytes-CD14+_RO01746	blood

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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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