Variant report

Variant	rs276932
Chromosome Location	chr18:28618926-28618927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1313593	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1313594	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs1313596	1.00[JPT][hapmap]
rs1313599	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1313693	0.82[JPT][hapmap]
rs1617054	0.80[AMR][1000 genomes]
rs166724	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs166725	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs169347	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs175777	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1789045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789046	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202439	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs276911	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs276912	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs276913	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs276915	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs276916	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs276920	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs276922	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs276923	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs276935	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs276940	0.85[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs276942	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs276944	0.85[CEU][hapmap]

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	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	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv961134	chr18:28612225-28625943	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs276932	DSC3	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28601000-28620800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:28609000-28619400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:28611800-28619200	Weak transcription	HMEC	breast
4	chr18:28614800-28619800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:28618000-28619200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:28618200-28619200	Enhancers	NHEK	skin
7	chr18:28618600-28621800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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