Variant report

Variant	rs4647844
Chromosome Location	chr1:86932730-86932731
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10493793	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805577	1.00[EUR][1000 genomes]
rs17129186	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28522658	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4647848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55719851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321760	1.00[EUR][1000 genomes]
rs56398778	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744302	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744304	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744314	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744320	1.00[EUR][1000 genomes]
rs5744324	1.00[EUR][1000 genomes]
rs5744335	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr1:86927000-86934200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:86927000-86934600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:86930600-86934000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:86932000-86932800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:86932000-86933000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:86932400-86932800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:86932400-86932800	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:86932400-86933000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:86932400-86933000	Enhancers	K562	blood
10	chr1:86932400-86933000	Enhancers	NHDF-Ad	bronchial
11	chr1:86932600-86932800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:86932600-86932800	Enhancers	Lung	lung
13	chr1:86932600-86933000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:86932600-86933000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:86932600-86933200	Enhancers	Osteobl	bone
16	chr1:86932600-86935400	Enhancers	Dnd41	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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