Variant report

Variant	rs9278019
Chromosome Location	chr6:33326434-33326435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33238564..33240970-chr6:33325772..33328532,3	MCF-7	breast:
2	chr6:33325008..33327752-chr6:33358204..33360429,2	K562	blood:
3	chr6:33324046..33327931-chr6:33328359..33332196,5	K562	blood:
4	chr6:33266017..33267860-chr6:33325857..33328088,3	MCF-7	breast:
5	chr6:33264242..33266619-chr6:33325685..33327636,2	MCF-7	breast:
6	chr6:33278819..33285671-chr6:33324194..33330069,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237441	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000236104	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1106606	0.89[EUR][1000 genomes]
rs11751696	0.90[EUR][1000 genomes]
rs11753355	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11756267	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11756767	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2235982	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41267647	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41271245	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4231	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55699469	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7752202	0.84[EUR][1000 genomes]
rs9277997	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9278001	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9278004	0.83[EUR][1000 genomes]
rs9278005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9278006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9278007	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9278015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9278016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9278027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278028	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9278038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9278039	0.83[EUR][1000 genomes]
rs9278040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9278043	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9278044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9278045	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9278046	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9278049	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][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	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9278019	UHRF1BP1	cis	cerebellum	SCAN
rs9278019	HLA-DRB5	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33322000-33332200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:33324400-33332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:33324600-33340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:33325800-33327800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:33326200-33329600	Weak transcription	Stomach Mucosa	stomach
6	chr6:33326400-33327600	Weak transcription	K562	blood

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