Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159057678..159060564-chr1:159061806..159064671,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1633266	0.80[JPT][hapmap]
rs16841642	0.83[GIH][hapmap]
rs1772407	0.86[CHD][hapmap]
rs1772408	0.86[CHD][hapmap]
rs1894043	0.90[ASN][1000 genomes]
rs1935067	0.83[GIH][hapmap]
rs2078723	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2298803	0.83[GIH][hapmap]
rs2518562	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2518563	1.00[ASN][1000 genomes]
rs2518564	1.00[ASN][1000 genomes]
rs2518565	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2570916	0.89[CHD][hapmap]
rs2814757	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814759	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2814760	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2852723	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs855866	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs855867	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.86[MKK][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs855871	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2814764	S100A7A	cis	parietal	SCAN
rs2814764	PEA15	cis	cerebellum	SCAN
rs2814764	PMF1	cis	parietal	SCAN
rs2814764	CCDC19	cis	cerebellum	SCAN
rs2814764	AIM2	cis	lymphoblastoid	seeQTL
rs2814764	AIM2	Cis_1M	lymphoblastoid	RTeQTL
rs2814764	FCRL4	cis	cerebellum	SCAN
rs2814764	DPM3	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159062400-159064800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:159062600-159064600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:159062600-159064800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:159062600-159064800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:159062600-159064800	Weak transcription	NHDF-Ad	bronchial
6	chr1:159062600-159064800	Weak transcription	Osteobl	bone
7	chr1:159062600-159065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:159062800-159065800	Weak transcription	HUVEC	blood vessel
9	chr1:159063200-159065200	Weak transcription	NHEK	skin
10	chr1:159063400-159065000	Weak transcription	HMEC	breast
11	chr1:159063400-159065200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:159063400-159067000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:159063400-159067000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:159064400-159066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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