Variant report

Variant	rs204543
Chromosome Location	chr19:44954260-44954261
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs12460539	0.95[ASN][1000 genomes]
rs16979070	0.95[ASN][1000 genomes]
rs204547	0.92[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs2571171	0.97[ASN][1000 genomes]
rs57014690	0.95[ASN][1000 genomes]
rs59505617	0.89[ASN][1000 genomes]
rs7246659	0.90[ASN][1000 genomes]
rs7246885	0.83[JPT][hapmap]
rs8101705	1.00[CHB][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.95[ASN][1000 genomes]
rs8113370	1.00[CHB][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.95[ASN][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	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs204543	SNORD32A	cis	parietal	SCAN
rs204543	NANOS2	cis	cerebellum	SCAN
rs204543	SIGLEC7	cis	cerebellum	SCAN
rs204543	SIGLEC9	cis	cerebellum	SCAN
rs204543	KLK9	cis	cerebellum	SCAN
rs204543	KLK14	cis	cerebellum	SCAN
rs204543	KLK13	cis	parietal	SCAN
rs204543	DMWD	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
2	chr19:44953000-44955200	Weak transcription	Pancreas	Pancrea
3	chr19:44953000-44955600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:44953000-44956000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:44954000-44954400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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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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