Variant report

Variant	rs11803050
Chromosome Location	chr1:224754303-224754304
allele	A/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]
rs11802812	1.00[AMR][1000 genomes]
rs11804994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61247305	1.00[AMR][1000 genomes]
rs6693360	1.00[AMR][1000 genomes]
rs7539939	1.00[AMR][1000 genomes]
rs7550112	1.00[AMR][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224740000-224762200	Weak transcription	Ovary	ovary
2	chr1:224753600-224755200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:224753600-224756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224753800-224755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:224753800-224758000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:224753800-224759400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:224754000-224756200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:224754000-224762000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:224754000-224767000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:224754000-224767200	Weak transcription	NHDF-Ad	bronchial
12	chr1:224754200-224755200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:224754200-224755200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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