Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:103111727..103114201-chr7:103114561..103117547,2	K562	blood:
2	chr7:103111982..103114637-chr7:103116557..103118162,2	MCF-7	breast:
3	chr7:103110722..103112367-chr7:103112649..103114305,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10233848	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12536415	0.84[CHD][hapmap]
rs1978198	1.00[ASN][1000 genomes]
rs1978199	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041006	0.92[ASN][1000 genomes]
rs2075040	0.84[CHD][hapmap]
rs2190417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2190418	1.00[ASN][1000 genomes]
rs2299331	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2528856	0.93[CHD][hapmap];0.83[JPT][hapmap]
rs2528869	0.89[ASN][1000 genomes]
rs2528871	0.90[ASN][1000 genomes]
rs2528876	0.88[ASN][1000 genomes]
rs2711846	0.81[CHB][hapmap];0.91[CHD][hapmap]
rs2711851	0.82[ASN][1000 genomes]
rs2711853	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs2711881	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2906641	0.93[ASN][1000 genomes]
rs2906643	0.94[ASN][1000 genomes]
rs2965087	0.99[ASN][1000 genomes]
rs2965098	0.90[ASN][1000 genomes]
rs3808043	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3808051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727570	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6944123	0.89[ASN][1000 genomes]
rs7783672	0.83[ASN][1000 genomes]
rs7808296	0.90[ASN][1000 genomes]
rs7808699	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3808050	SLC26A5	cis	cerebellum	SCAN
rs3808050	CDHR3	cis	cerebellum	SCAN
rs3808050	CUX1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103103600-103121400	Weak transcription	HepG2	liver

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