Variant report

Variant	rs1275194
Chromosome Location	chr14:69466811-69466812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69444740..69447342-chr14:69466508..69469166,2	MCF-7	breast:
2	chr14:69463481..69466834-chr14:69468000..69470132,3	K562	blood:
3	chr14:69459219..69461706-chr14:69466342..69467998,2	MCF-7	breast:
4	chr14:69444685..69446945-chr14:69465078..69467407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10151419	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620980	1.00[ASN][1000 genomes]
rs11623192	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275409	1.00[YRI][hapmap]
rs2012752	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242091	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242096	1.00[ASN][1000 genomes]
rs242097	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242099	1.00[ASN][1000 genomes]
rs242100	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs242101	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs242102	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242104	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs242109	0.91[CEU][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs398504	1.00[ASN][1000 genomes]
rs4083451	1.00[ASN][1000 genomes]
rs436106	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446091	0.86[AMR][1000 genomes]
rs4899275	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902681	0.82[GIH][hapmap];1.00[ASN][1000 genomes]
rs4902683	0.95[CEU][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56060157	1.00[ASN][1000 genomes]
rs61981591	1.00[ASN][1000 genomes]
rs761898	0.80[CEU][hapmap];1.00[MEX][hapmap]
rs927064	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1275194	MAP3K9	cis	cerebellum	SCAN
rs1275194	GALNTL1	cis	cerebellum	SCAN
rs1275194	ADAM21	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69447000-69471400	Weak transcription	Esophagus	oesophagus
2	chr14:69456000-69471200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69462800-69470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:69465000-69468800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:69465000-69471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:69465000-69471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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