Variant report

Variant	rs11994044
Chromosome Location	chr8:125221563-125221564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10095890	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899417	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28432990	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55880011	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6985549	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985725	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72722871	0.86[EUR][1000 genomes]
rs72722880	0.82[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	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr8:125215400-125221800	Weak transcription	Fetal Heart	heart
2	chr8:125216400-125240200	Weak transcription	Left Ventricle	heart
3	chr8:125220200-125221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:125220200-125221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:125220200-125221800	Weak transcription	Psoas Muscle	Psoas
6	chr8:125220200-125222200	Weak transcription	Fetal Lung	lung
7	chr8:125220600-125222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:125220600-125224600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:125220800-125222000	Weak transcription	Adipose Nuclei	Adipose
10	chr8:125220800-125222800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:125220800-125223200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:125221000-125225000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:125221000-125225000	Weak transcription	Osteobl	bone
14	chr8:125221000-125225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:125221200-125221600	Weak transcription	NHDF-Ad	bronchial
16	chr8:125221200-125222000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:125221400-125223000	Enhancers	HUVEC	blood vessel

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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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