Variant report

Variant	rs11183911
Chromosome Location	chr12:47769251-47769252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47763219..47766043-chr12:47768327..47771310,3	MCF-7	breast:
2	chr12:47766787..47769270-chr12:47771320..47773124,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11183910	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11183912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183915	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183918	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183921	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11183922	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11183923	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11183924	0.86[AMR][1000 genomes]
rs11183927	0.86[AMR][1000 genomes]
rs12371209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1642941	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs215343	0.86[MEX][hapmap]
rs215346	0.85[JPT][hapmap]
rs215347	0.89[JPT][hapmap]
rs215348	0.87[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap]
rs215360	0.87[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs215362	0.87[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs215371	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs215377	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs215382	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs215383	0.86[AMR][1000 genomes]
rs215385	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs215387	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs215390	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs215393	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs215394	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs215395	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs215396	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61927860	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61927894	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61927895	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61927896	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61929787	0.92[AMR][1000 genomes];0.89[EUR][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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11183911	HDAC7	cis	cerebellum	SCAN
rs11183911	PRKAG1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47762800-47771800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:47763200-47770800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:47763200-47772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47763200-47772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:47766200-47771200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:47766600-47772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:47768200-47770800	Weak transcription	HUVEC	blood vessel

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