Variant report

Variant	rs1789051
Chromosome Location	chr18:28576533-28576534
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12965995	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047083	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs28649248	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap]
rs35877601	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826561	0.93[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap]
rs7229686	0.93[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap]
rs8089682	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap]
rs8096598	0.93[CHB][hapmap];0.95[CHD][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833613	chr18:28446454-28623599	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv909515	chr18:28556767-28584556	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv470414	chr18:28566665-28576533	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28566200-28600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:28572600-28579000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:28573000-28580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:28573200-28576800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr18:28573200-28590600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:28573400-28578000	Strong transcription	NHEK	skin
7	chr18:28573400-28591000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:28573800-28580800	Strong transcription	HMEC	breast
9	chr18:28575000-28578600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:28575400-28585200	Weak transcription	Esophagus	oesophagus
11	chr18:28576000-28577400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:28576400-28578200	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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