Variant report

Variant	rs5754266
Chromosome Location	chr22:33172005-33172006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11703156	1.00[JPT][hapmap]
rs11703906	1.00[JPT][hapmap]
rs11704023	1.00[JPT][hapmap]
rs5749512	1.00[JPT][hapmap]
rs5749524	1.00[JPT][hapmap]
rs5754250	1.00[JPT][hapmap]
rs5754274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754280	1.00[JPT][hapmap]
rs5754281	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs5754288	1.00[JPT][hapmap]
rs7289098	1.00[JPT][hapmap]
rs737088	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	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5754266	SLC35E4	cis	cerebellum	SCAN
rs5754266	MTMR3	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33168000-33172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33168200-33172400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:33169200-33172400	Weak transcription	Thymus	Thymus
6	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:33171000-33173000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr22:33171400-33173000	Enhancers	Spleen	Spleen
9	chr22:33171600-33173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:33171600-33174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:33171800-33172600	Enhancers	Liver	Liver
12	chr22:33171800-33174200	Enhancers	Fetal Thymus	thymus
13	chr22:33171800-33175000	Enhancers	HepG2	liver
14	chr22:33172000-33172200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:33172000-33173000	Enhancers	Adipose Nuclei	Adipose
16	chr22:33172000-33173400	Enhancers	Primary hematopoietic stem cells	blood
17	chr22:33172000-33173600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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