Variant report

Variant	rs33512
Chromosome Location	chr3:42394776-42394777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11713695	1.00[ASN][1000 genomes]
rs13340160	1.00[ASN][1000 genomes]
rs1442272	1.00[ASN][1000 genomes]
rs247411	1.00[ASN][1000 genomes]
rs2907773	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33506	1.00[ASN][1000 genomes]
rs33507	1.00[ASN][1000 genomes]
rs33508	1.00[ASN][1000 genomes]
rs33509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33513	1.00[ASN][1000 genomes]
rs61083637	1.00[ASN][1000 genomes]
rs62248806	1.00[ASN][1000 genomes]
rs62257797	1.00[ASN][1000 genomes]
rs735088	1.00[ASN][1000 genomes]
rs7623466	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1009125	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv536549	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2756986	chr3:42360106-42403380	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv2759144	chr3:42360106-42403380	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv1008543	chr3:42372639-42401033	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs33512	ZNF445	cis	cerebellum	SCAN
rs33512	XYLB	cis	cerebellum	SCAN
rs33512	ZNF167	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42390600-42396800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr3:42392000-42396400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:42392200-42399400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:42392800-42395400	Weak transcription	Fetal Brain Female	brain
5	chr3:42393800-42395000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:42394000-42396400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:42394200-42395200	Weak transcription	Brain Germinal Matrix	brain
8	chr3:42394600-42394800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:42394600-42394800	Enhancers	Aorta	Aorta

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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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