Variant report

Variant	rs7239823
Chromosome Location	chr18:27967522-27967523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12104039	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72912567	0.85[EUR][1000 genomes];0.84[ASN][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	nsv1057946	chr18:27239754-28146129	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
2	nsv576600	chr18:27423375-28197518	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
3	nsv909501	chr18:27797293-27976234	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
4	esv34009	chr18:27957966-28115014	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7239823	DSC3	cis	cerebellum	SCAN
rs7239823	DSG3	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:27967000-27967600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:27967000-27967600	Enhancers	Adipose Nuclei	Adipose
3	chr18:27967000-27967800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:27967000-27968000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:27967000-27968000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:27967200-27967600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr18:27967200-27967600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:27967200-27967600	Flanking Active TSS	K562	blood
9	chr18:27967200-27967800	Enhancers	HUES64 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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