Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:9393461..9396272-chr8:9412433..9414055,2	MCF-7	breast:
2	chr8:9381679..9385317-chr8:9394416..9398021,3	K562	blood:
3	chr8:9395511..9397201-chr8:9397334..9400300,2	K562	blood:

Variant related genes	Relation type
ENSG00000173273	Chromatin interaction
ENSG00000272267	Chromatin interaction

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

rs_ID	r²[population]
rs10109026	0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs12155819	0.85[MKK][hapmap]
rs12156017	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12542457	0.82[MKK][hapmap]
rs12543959	0.80[YRI][hapmap]
rs12545250	0.87[JPT][hapmap]
rs12676193	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13262031	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13263409	0.83[YRI][hapmap]
rs13270518	0.86[YRI][hapmap]
rs13276086	0.85[MKK][hapmap]
rs1394	0.81[ASW][hapmap];0.83[YRI][hapmap]
rs1458942	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4128198	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs4840425	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4840426	0.87[JPT][hapmap]
rs6601338	0.83[JPT][hapmap]
rs6601340	0.82[YRI][hapmap]
rs6980728	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990300	0.85[MKK][hapmap]
rs6990418	0.86[JPT][hapmap]
rs6994574	0.81[MKK][hapmap]
rs7004937	0.86[JPT][hapmap]
rs7016732	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7461939	0.81[MKK][hapmap]
rs9644704	0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Multiple myeloma (hyperdiploidy)	23502783	GWAS catalog

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6601327	FLJ10661	cis	cerebellum	SCAN
rs6601327	PRSS55	cis	cerebellum	SCAN
rs6601327	DEFB134	cis	cerebellum	SCAN
rs6601327	MFHAS1	cis	cerebellum	SCAN
rs6601327	CLDN23	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9390000-9409800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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