Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:30991212..30991804-chr14:30999623..31000204,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10146357	0.83[CEU][hapmap]
rs10147257	0.83[CEU][hapmap]
rs1113946	0.94[CEU][hapmap];0.87[GIH][hapmap];0.84[EUR][1000 genomes]
rs1123860	0.83[CEU][hapmap]
rs11624235	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627421	0.83[CEU][hapmap]
rs11846071	0.82[AMR][1000 genomes]
rs11846408	0.82[CEU][hapmap]
rs12882931	0.83[CEU][hapmap]
rs12888568	0.94[CEU][hapmap];0.81[GIH][hapmap]
rs12894186	0.83[CEU][hapmap]
rs142983	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs17096941	0.83[CEU][hapmap]
rs17097023	0.83[CEU][hapmap]
rs2038451	0.93[CEU][hapmap]
rs2273521	0.83[CEU][hapmap]
rs2273522	0.83[CEU][hapmap]
rs229214	0.92[EUR][1000 genomes]
rs35069045	0.83[CEU][hapmap]
rs3736773	0.94[CEU][hapmap];0.81[GIH][hapmap];0.81[TSI][hapmap]
rs3825740	0.87[EUR][1000 genomes]
rs4430662	0.83[CEU][hapmap]
rs55725270	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs761956	0.83[CEU][hapmap]
rs8008094	0.83[CEU][hapmap]
rs8009427	0.86[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs229215	G2E3	cis	parietal	SCAN
rs229215	SCFD1	cis	cerebellum	SCAN
rs229215	SCFD1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:30997600-30999800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:30998600-31000000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:30999600-30999800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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