Variant report

Variant	rs2453578
Chromosome Location	chr17:19430645-19430646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11870808	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11871125	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2252281	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2440164	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2440165	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2453579	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453580	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2453581	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2453582	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2453583	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2453584	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55661368	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8071709	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs894680	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

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	nsv1057927	chr17:19152728-19431280	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv543252	chr17:19152728-19431280	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19424000-19432400	Weak transcription	Fetal Intestine Small	intestine
2	chr17:19426000-19433800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr17:19430000-19430800	Enhancers	Liver	Liver
4	chr17:19430000-19431400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr17:19430000-19432600	Weak transcription	Fetal Intestine Large	intestine
6	chr17:19430200-19433800	Weak transcription	Fetal Stomach	stomach
7	chr17:19430200-19436400	Weak transcription	A549	lung
8	chr17:19430200-19436600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:19430400-19432600	Weak transcription	HepG2	liver

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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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