Variant report

Variant	rs471547
Chromosome Location	chr11:71846179-71846180
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs495825	0.82[CHB][hapmap]
rs522381	0.82[CHB][hapmap];0.85[YRI][hapmap]
rs650372	1.00[JPT][hapmap]

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs471547	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71828400-71850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:71834400-71851000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:71836000-71847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:71836800-71847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:71839800-71846600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:71844000-71847400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:71844400-71846400	Weak transcription	Spleen	Spleen
8	chr11:71844600-71847800	Weak transcription	NHEK	skin
9	chr11:71845600-71848800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:71845800-71847800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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