Variant report

Variant	rs2063461
Chromosome Location	chr5:90635917-90635918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10942629	0.93[EUR][1000 genomes]
rs11950828	0.91[EUR][1000 genomes]
rs4916713	0.88[EUR][1000 genomes]
rs4916860	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57318317	0.95[EUR][1000 genomes]
rs60716916	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373948	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373959	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6873839	0.91[EUR][1000 genomes]
rs6886011	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90632600-90637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:90634600-90636000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:90634600-90636000	Enhancers	Brain Anterior Caudate	brain
4	chr5:90634600-90636000	Enhancers	Brain Substantia Nigra	brain
5	chr5:90634800-90636400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:90634800-90637800	Enhancers	Hela-S3	cervix
7	chr5:90635000-90636200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:90635000-90639000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:90635200-90636800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:90635400-90636000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:90635400-90636400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:90635400-90636400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:90635400-90636800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:90635600-90639800	Weak transcription	A549	lung
15	chr5:90635800-90637200	Weak transcription	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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