Variant report

Variant	rs1442190
Chromosome Location	chr12:41365640-41365641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1083206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11179174	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11179263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296475	0.87[AMR][1000 genomes]
rs13328933	0.94[AFR][1000 genomes]
rs1866996	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs278903	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs278906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs278914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs280357	0.84[EUR][1000 genomes]
rs397967	1.00[EUR][1000 genomes]
rs73275657	1.00[ASN][1000 genomes]
rs73275694	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73277750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9652040	0.87[AMR][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv826346	chr12:41313148-41374833	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Parkinson's disease	24842889	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41353200-41373600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:41363600-41369400	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:41364000-41369600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:41365000-41366000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:41365600-41366000	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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