Variant report

Variant	rs1449496
Chromosome Location	chr2:142803290-142803291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10803487	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10928133	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10928134	0.93[ASN][1000 genomes]
rs11677754	0.91[ASN][1000 genomes]
rs11688838	0.91[ASN][1000 genomes]
rs11692364	0.94[ASN][1000 genomes]
rs12105566	0.93[ASN][1000 genomes]
rs12105584	0.93[ASN][1000 genomes]
rs12618881	0.93[ASN][1000 genomes]
rs12619411	0.85[ASN][1000 genomes]
rs12621782	0.93[ASN][1000 genomes]
rs12998297	0.94[ASN][1000 genomes]
rs13000270	0.84[ASN][1000 genomes]
rs13036224	0.97[ASN][1000 genomes]
rs1375603	0.91[ASN][1000 genomes]
rs1375616	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449475	0.90[ASN][1000 genomes]
rs1449481	0.84[ASN][1000 genomes]
rs1449489	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1449490	0.98[ASN][1000 genomes]
rs1449494	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449495	1.00[ASN][1000 genomes]
rs1449498	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449499	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449501	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449503	0.96[ASN][1000 genomes]
rs1449504	0.97[ASN][1000 genomes]
rs17824487	0.91[ASN][1000 genomes]
rs1868543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1868544	0.99[ASN][1000 genomes]
rs1900933	0.93[ASN][1000 genomes]
rs1900934	0.93[ASN][1000 genomes]
rs2029142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197910	0.91[ASN][1000 genomes]
rs2218734	0.84[ASN][1000 genomes]
rs34392492	0.91[ASN][1000 genomes]
rs4550611	0.86[ASN][1000 genomes]
rs4662370	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4662373	0.84[ASN][1000 genomes]
rs62157626	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62157627	0.99[ASN][1000 genomes]
rs6754907	0.88[ASN][1000 genomes]
rs736602	0.86[ASN][1000 genomes]
rs7558803	0.91[ASN][1000 genomes]
rs7598886	0.91[ASN][1000 genomes]
rs7605112	0.97[ASN][1000 genomes]
rs993935	0.93[ASN][1000 genomes]
rs9941495	0.91[ASN][1000 genomes]
rs9941695	0.93[ASN][1000 genomes]
rs997123	0.83[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	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142796200-142809800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:142800400-142803400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:142800400-142810200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:142801800-142803400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:142802400-142803600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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