Variant report

Variant	rs12606796
Chromosome Location	chr18:39848631-39848632
allele	C/G
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:17)

rs_ID	r²[population]
rs10502782	1.00[EUR][1000 genomes]
rs10502783	1.00[EUR][1000 genomes]
rs11082269	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874061	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12604128	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1381345	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1461723	0.81[ASN][1000 genomes]
rs16975802	0.87[EUR][1000 genomes]
rs16975811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3763494	0.84[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4890232	1.00[EUR][1000 genomes]
rs59555547	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7235200	1.00[EUR][1000 genomes]
rs73459515	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73461272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8089535	1.00[EUR][1000 genomes]
rs9955570	1.00[EUR][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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063343	chr18:39760943-39898498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	nsv1059553	chr18:39828781-39872695	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39840600-39854400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:39846800-39849000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:39847800-39854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:39848400-39848800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:39848400-39849000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr18:39848600-39849000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr18:39848600-39849000	Enhancers	Brain Cingulate Gyrus	brain
8	chr18:39848600-39849200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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

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