Variant report

Variant	rs548219917
Chromosome Location	chr18:8868196-8868197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3371303	chr18:8867052-8871150	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8866000-8869800	Weak transcription	NHEK	skin
2	chr18:8866200-8869400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:8866400-8869000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:8867000-8868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr18:8867000-8868200	Weak transcription	K562	blood
6	chr18:8868000-8868600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:8868000-8869000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr18:8868000-8869000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:8868000-8869600	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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