Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160387401..160389689-chr3:160399672..160401960,2	K562	blood:
2	chr3:160396356..160398268-chr3:160398713..160401566,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10936210	0.83[AMR][1000 genomes]
rs11714916	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11927913	0.83[AMR][1000 genomes]
rs12490985	0.82[AMR][1000 genomes]
rs1403045	0.83[AMR][1000 genomes]
rs1522285	0.80[AMR][1000 genomes]
rs16831337	0.83[AMR][1000 genomes]
rs1879797	0.86[MEX][hapmap]
rs1980277	0.80[AMR][1000 genomes]
rs2204817	0.83[ASN][1000 genomes]
rs2367209	0.83[ASN][1000 genomes]
rs4133253	0.83[AMR][1000 genomes]
rs6763757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764067	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6788429	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788886	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6801636	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6803670	0.80[AMR][1000 genomes]
rs6806755	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs7610939	0.91[MEX][hapmap];0.83[AMR][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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6763892	IFT80	cis	parietal	SCAN
rs6763892	RSRC1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160395600-160401600	Weak transcription	Gastric	stomach
2	chr3:160395600-160401800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:160397000-160412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:160397200-160401800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:160397400-160400800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:160397400-160401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:160397400-160401600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:160397400-160401800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:160397400-160403000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:160397600-160401800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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