Variant report

Variant	rs4522364
Chromosome Location	chr15:50342224-50342225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10220786	0.82[YRI][hapmap]
rs11070743	0.92[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12437905	0.81[CHB][hapmap]
rs12442429	0.82[YRI][hapmap]
rs12591096	0.88[ASN][1000 genomes]
rs12593242	0.82[ASN][1000 genomes]
rs2414003	0.90[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];0.88[ASN][1000 genomes]
rs56400949	0.88[ASN][1000 genomes]
rs8035652	0.81[CHB][hapmap]
rs8041864	0.81[LWK][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1530	chr15:50302524-50347616	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4522364	ATP8B4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50321200-50343600	Weak transcription	Hela-S3	cervix
2	chr15:50335800-50343000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:50336600-50343200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:50337400-50347400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:50337800-50344200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:50338400-50343400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr15:50338600-50343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:50338800-50343800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:50339400-50347200	Weak transcription	Aorta	Aorta
10	chr15:50340600-50343600	Strong transcription	Primary hematopoietic stem cells	blood
11	chr15:50341200-50347000	Weak transcription	Right Atrium	heart
12	chr15:50341400-50346200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:50341600-50342400	Enhancers	Osteobl	bone
14	chr15:50341600-50347000	Enhancers	NHDF-Ad	bronchial
15	chr15:50341600-50347200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:50341800-50342800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:50342000-50342400	Weak transcription	NHLF	lung
18	chr15:50342200-50342400	Enhancers	Foreskin Fibroblast Primary Cells skin02	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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