Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104006537..104008285-chr7:104010089..104012700,2	K562	blood:
2	chr7:104009174..104011745-chr7:104015096..104016988,2	K562	blood:

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

rs_ID	r²[population]
rs10953426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953427	0.91[MEX][hapmap]
rs10953428	0.86[MEX][hapmap]
rs1465197	1.00[YRI][hapmap]
rs1468141	0.86[YRI][hapmap]
rs1468143	0.86[MEX][hapmap]
rs1468144	0.86[MEX][hapmap]
rs17331419	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2012179	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2188491	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2188493	0.95[MEX][hapmap]
rs2188494	0.86[MEX][hapmap]
rs2214086	0.86[MEX][hapmap]
rs2214087	0.91[MEX][hapmap]
rs4730000	0.83[LWK][hapmap];1.00[YRI][hapmap]
rs7787976	0.93[YRI][hapmap]
rs7787988	0.86[YRI][hapmap]
rs7794488	0.86[YRI][hapmap]
rs7798273	0.86[MEX][hapmap]
rs7800144	0.86[YRI][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	nsv608067	chr7:103944237-104029408	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6465983	ACTL6B	cis	parietal	SCAN
rs6465983	COG5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104004200-104010600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:104004800-104016600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:104008600-104012200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104009200-104010600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:104009800-104011400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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