Variant report

Variant	rs2569488
Chromosome Location	chr19:51579646-51579647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10445581	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10500304	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16988866	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16988872	0.81[ASN][1000 genomes]
rs17658926	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs1880416	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2569485	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2569489	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2569491	1.00[JPT][hapmap];0.85[MEX][hapmap]
rs66613646	0.81[ASN][1000 genomes]
rs7351079	1.00[JPT][hapmap]
rs867192	0.81[ASN][1000 genomes]
rs9304708	0.94[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	esv34104	chr19:51566170-51641675	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2569488	ZNF415	cis	cerebellum	SCAN
rs2569488	EPN1	cis	cerebellum	SCAN
rs2569488	ZNF587	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51574200-51582600	Weak transcription	Pancreas	Pancrea
2	chr19:51574800-51579800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51579000-51580400	Enhancers	NHEK	skin
4	chr19:51579200-51580000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:51579200-51580200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:51579600-51580000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr19:51579600-51580000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr19:51579600-51580200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr19:51579600-51580600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr19:51579600-51580600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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