Variant report

Variant	rs2243717
Chromosome Location	chr1:93503670-93503671
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2448417	0.83[EUR][1000 genomes]
rs2492901	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2785609	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2785610	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2815416	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs966038	0.89[AMR][1000 genomes];0.96[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93488000-93504200	Enhancers	Fetal Thymus	thymus
2	chr1:93495800-93504200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:93499400-93505000	Enhancers	Dnd41	blood
4	chr1:93499800-93507800	Weak transcription	K562	blood
5	chr1:93500400-93503800	Weak transcription	GM12878-XiMat	blood
6	chr1:93500400-93507800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:93501600-93507600	Weak transcription	Thymus	Thymus
8	chr1:93502400-93506600	Weak transcription	HepG2	liver
9	chr1:93503400-93504000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:93503600-93503800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:93503600-93504000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:93503600-93504000	Enhancers	Primary neutrophils 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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