Variant report

Variant	rs536841
Chromosome Location	chr11:85787824-85787825
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	chr11:85785404..85787947-chr11:85789787..85792385,3	K562	blood:
2	chr11:85779081..85782313-chr11:85782461..85788148,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10751134	0.83[LWK][hapmap];0.82[YRI][hapmap]
rs10792832	0.82[YRI][hapmap]
rs1973630	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2458493	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2458496	1.00[YRI][hapmap]
rs2458500	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2508688	0.80[AFR][1000 genomes]
rs2508691	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2508696	0.96[CEU][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2509608	1.00[YRI][hapmap]
rs2509609	0.88[AFR][1000 genomes]
rs480781	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs489486	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs493254	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs527162	0.86[ASW][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs535590	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs541458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs561646	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs561655	0.84[CEU][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.92[AMR][1000 genomes]
rs565719	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs585820	0.83[AFR][1000 genomes]
rs587038	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs588076	0.83[LWK][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes]
rs592297	0.86[ASW][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs600743	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs601185	0.80[AFR][1000 genomes]
rs602222	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs604767	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs606505	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs609903	0.96[CEU][hapmap];0.83[GIH][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs618629	0.80[AFR][1000 genomes]
rs631639	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs635168	0.88[AFR][1000 genomes]
rs636355	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs637304	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs638509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs639012	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs645299	0.95[CEU][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs652165	0.94[ASN][1000 genomes]
rs655641	0.80[AFR][1000 genomes]
rs659863	0.87[EUR][1000 genomes]
rs669556	0.84[ASW][hapmap];0.89[MKK][hapmap]
rs669813	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs673751	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs676733	0.92[CEU][hapmap];0.81[GIH][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs677869	0.87[EUR][1000 genomes]
rs677909	0.86[ASW][hapmap];0.96[CEU][hapmap];0.83[GIH][hapmap];0.81[LWK][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs682928	0.96[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs694011	0.95[CEU][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7941541	0.86[ASW][hapmap];0.94[LWK][hapmap];0.82[YRI][hapmap]
rs7951988	1.00[YRI][hapmap]
rs867611	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][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	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Alzheimer's disease	21627779	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs536841	PICALM	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85781400-85796000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:85785600-85788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:85785800-85788400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:85785800-85789800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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