Variant report

Variant	rs4924997
Chromosome Location	chr17:19422725-19422726
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2920450	0.97[ASN][1000 genomes]
rs4493120	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4531795	0.87[EUR][1000 genomes]
rs7405832	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7405847	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19412200-19423600	Weak transcription	Lung	lung
2	chr17:19412200-19427400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:19417600-19422800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:19421200-19422800	Weak transcription	Fetal Heart	heart
5	chr17:19421400-19423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:19421600-19422800	Weak transcription	Fetal Intestine Small	intestine
7	chr17:19422200-19424800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr17:19422400-19422800	Enhancers	HepG2	liver
9	chr17:19422400-19423000	Enhancers	Placenta	Placenta
10	chr17:19422400-19424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:19422400-19424200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:19422600-19423800	Enhancers	Ovary	ovary
13	chr17:19422600-19424200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:19422600-19424200	Enhancers	Fetal Intestine Large	intestine
15	chr17:19422600-19424400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr17:19422600-19424800	Enhancers	Primary hematopoietic stem cells	blood
17	chr17:19422600-19426000	Enhancers	Primary monocytes fromperipheralblood	blood

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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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