Variant report

Variant	rs2289666
Chromosome Location	chr17:19471026-19471027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2292289	1.00[EUR][1000 genomes]
rs3744694	1.00[JPT][hapmap]
rs4646783	1.00[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	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19457000-19483000	Weak transcription	Psoas Muscle	Psoas
2	chr17:19459200-19482000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:19462200-19473400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr17:19463600-19473600	Weak transcription	Spleen	Spleen
5	chr17:19464000-19483800	Weak transcription	A549	lung
6	chr17:19467600-19473400	Weak transcription	Aorta	Aorta
7	chr17:19468000-19471200	Strong transcription	Liver	Liver
8	chr17:19468200-19471600	Strong transcription	HepG2	liver
9	chr17:19468200-19478000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr17:19468400-19471200	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr17:19470600-19471200	Strong transcription	Esophagus	oesophagus
12	chr17:19470800-19471200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:19470800-19471200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:19471000-19471200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr17:19471000-19471200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:19471000-19471200	Enhancers	Right Atrium	heart

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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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