Variant report

Variant	rs4462687
Chromosome Location	chr18:25370246-25370247
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10775519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2001312	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4239449	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4239450	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4362461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4362462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4380122	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61750936	1.00[AMR][1000 genomes]
rs7235802	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv833604	chr18:25226727-25417423	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1058084	chr18:25355165-25383779	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1056800	chr18:25357990-25379390	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25369000-25370800	Enhancers	NHEK	skin
2	chr18:25369200-25370600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:25369200-25370600	Enhancers	HMEC	breast
4	chr18:25369400-25370400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr18:25369400-25370400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:25369800-25372000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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