Variant report

Variant	rs7800545
Chromosome Location	chr7:119943111-119943112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:119942149..119944004-chr7:119974588..119977406,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10488286	1.00[ASW][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10953909	1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs11487122	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11760262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763966	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767260	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11767585	0.81[ASW][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap]
rs11768610	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11769340	1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11773232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982510	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17323760	0.82[EUR][1000 genomes]
rs17323788	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs17374849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594101	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17594220	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34850246	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140688	0.82[EUR][1000 genomes]
rs4730954	0.96[TSI][hapmap]
rs55680276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55963403	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56244901	0.90[ASN][1000 genomes]
rs56967206	0.84[EUR][1000 genomes]
rs62469500	0.83[ASN][1000 genomes]
rs62469501	0.83[ASN][1000 genomes]
rs62469503	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62469505	0.90[ASN][1000 genomes]
rs62469506	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62469507	0.90[ASN][1000 genomes]
rs62470461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62470532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62470539	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62470541	0.84[EUR][1000 genomes]
rs62470545	0.83[EUR][1000 genomes]
rs62470547	0.84[EUR][1000 genomes]
rs62470548	0.84[EUR][1000 genomes]
rs62470550	0.83[EUR][1000 genomes]
rs6466742	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6942755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6969916	0.90[ASN][1000 genomes]
rs6978586	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73213448	0.83[ASN][1000 genomes]
rs73213458	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs736612	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7777091	0.83[ASN][1000 genomes]
rs7778213	1.00[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs7786492	0.83[ASN][1000 genomes]
rs7809257	0.84[CEU][hapmap]

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	nsv608326	chr7:119828331-119995890	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7800545	CADPS2	cis	cerebellum	SCAN
rs7800545	CSRP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119939400-119995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:119943000-119944200	Flanking Active TSS	GM12878-XiMat	blood

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