Variant report

Variant	rs1823718
Chromosome Location	chr15:74147244-74147245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74089228..74091085-chr15:74146117..74148842,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1031407	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11072447	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11632129	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636136	0.86[JPT][hapmap]
rs11639300	1.00[CHD][hapmap]
rs12909231	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910560	0.85[ASN][1000 genomes]
rs12914845	0.87[ASN][1000 genomes]
rs12915472	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1377060	0.90[ASN][1000 genomes]
rs1452385	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1452386	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1452387	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1478558	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17188111	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1901571	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045931	0.89[CEU][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2167649	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2198295	0.90[ASN][1000 genomes]
rs2415231	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28379895	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34222037	0.82[ASN][1000 genomes]
rs35814490	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4272992	1.00[CHD][hapmap]
rs4338750	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4366671	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4457949	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4633670	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4886412	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886418	0.90[ASN][1000 genomes]
rs4886419	0.90[ASN][1000 genomes]
rs4886643	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4886644	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4886645	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886646	0.81[ASN][1000 genomes]
rs4886694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886698	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886717	1.00[CHD][hapmap]
rs62007073	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6495081	0.90[ASN][1000 genomes]
rs71399764	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7163502	1.00[CHD][hapmap]
rs7181093	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs746653	0.85[ASN][1000 genomes]
rs746654	0.85[ASN][1000 genomes]
rs8023709	0.90[ASN][1000 genomes]
rs896593	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs896600	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[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	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1823718	PAQR5	cis	cerebellum	SCAN
rs1823718	HEXA	cis	parietal	SCAN
rs1823718	STOML1	cis	parietal	SCAN
rs1823718	LRRC49	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74146600-74147400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:74146600-74147400	Enhancers	Fetal Brain Male	brain
3	chr15:74146600-74147400	Enhancers	Right Atrium	heart
4	chr15:74146600-74147600	Enhancers	Left Ventricle	heart
5	chr15:74146800-74149000	Weak transcription	Right Ventricle	heart

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