Variant report

Variant	rs11563032
Chromosome Location	chr2:234875047-234875048
allele	A/G
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:13)

rs_ID	r²[population]
rs11563030	1.00[AMR][1000 genomes]
rs11563031	1.00[AMR][1000 genomes]
rs11563127	1.00[AMR][1000 genomes]
rs11563128	1.00[AMR][1000 genomes]
rs11563129	1.00[AMR][1000 genomes]
rs11563130	1.00[YRI][hapmap]
rs11563253	1.00[AMR][1000 genomes]
rs2190952	1.00[AMR][1000 genomes]
rs28899480	1.00[AMR][1000 genomes]
rs28900424	1.00[AMR][1000 genomes]
rs28901878	1.00[AMR][1000 genomes]
rs28901880	1.00[AMR][1000 genomes]
rs28902182	1.00[AMR][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234849400-234883400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:234862600-234882200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:234863000-234882200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:234873400-234875400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:234873600-234875800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:234874000-234876000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:234874000-234879400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:234874400-234875200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:234874800-234876200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:234875000-234875200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:234875000-234875400	Flanking Active TSS	HSMMtube	muscle
12	chr2:234875000-234875600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:234875000-234875800	Enhancers	Brain Anterior Caudate	brain
14	chr2:234875000-234875800	Enhancers	HSMM	muscle
15	chr2:234875000-234876200	Enhancers	Brain Angular Gyrus	brain
16	chr2:234875000-234876200	Enhancers	Brain Hippocampus Middle	brain
17	chr2:234875000-234876400	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:234875000-234878000	Enhancers	Primary Natural Killer cells 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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