Variant report

Variant	rs2511587
Chromosome Location	chr8:105256285-105256286
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105252275..105253878-chr8:105256264..105258557,2	K562	blood:
2	chr8:105254904..105257765-chr8:105258303..105260079,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10102063	0.90[EUR][1000 genomes]
rs1060441	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441790	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2441794	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441802	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2441815	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441818	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2441819	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2441821	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2441823	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2441824	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2441826	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2441827	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2441832	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2441848	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2441850	0.90[EUR][1000 genomes]
rs2441851	0.91[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2441885	0.92[EUR][1000 genomes]
rs2441895	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2441896	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2441902	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2441905	0.93[EUR][1000 genomes]
rs2441907	0.92[EUR][1000 genomes]
rs2441910	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511553	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511580	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511585	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511590	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511594	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511595	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511597	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511598	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2511602	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511603	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511605	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511606	0.87[EUR][1000 genomes]
rs2511609	0.90[EUR][1000 genomes]
rs2511619	0.82[EUR][1000 genomes]
rs2511625	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511626	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511640	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511641	0.93[EUR][1000 genomes]
rs2511643	0.93[EUR][1000 genomes]
rs2511646	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511648	0.91[EUR][1000 genomes]
rs2514629	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2514630	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2514631	0.91[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2514632	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2514640	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2514645	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2514652	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514659	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2514672	0.90[EUR][1000 genomes]
rs3099574	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4734750	0.99[ASN][1000 genomes]
rs750432	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2511587	NCALD	cis	parietal	SCAN
rs2511587	RIMS2	cis	brain	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105236800-105257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:105253400-105266800	Weak transcription	HMEC	breast
3	chr8:105253800-105259000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:105253800-105265800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:105254000-105257800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:105254000-105266600	Weak transcription	NHEK	skin
7	chr8:105255800-105259000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:105256000-105256400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:105256200-105258200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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