Variant report

Variant	rs12337790
Chromosome Location	chr9:6025559-6025560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:6007035..6009287-chr9:6023689..6025799,2	K562	blood:
2	chr9:6015628..6017411-chr9:6023313..6026226,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263575	Chromatin interaction
ENSG00000183354	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10116214	1.00[EUR][1000 genomes]
rs10124484	1.00[CHB][hapmap]
rs10125832	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10758734	0.80[GIH][hapmap]
rs10975350	1.00[EUR][1000 genomes]
rs10975351	1.00[EUR][1000 genomes]
rs10975362	1.00[EUR][1000 genomes]
rs10975363	1.00[EUR][1000 genomes]
rs10975364	1.00[EUR][1000 genomes]
rs10975372	1.00[EUR][1000 genomes]
rs10975377	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs11506678	1.00[EUR][1000 genomes]
rs11793956	0.81[AMR][1000 genomes]
rs12337300	1.00[EUR][1000 genomes]
rs12337445	1.00[EUR][1000 genomes]
rs12339713	1.00[EUR][1000 genomes]
rs12339886	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs12339889	1.00[CHB][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12340153	1.00[EUR][1000 genomes]
rs12340531	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12341021	1.00[CHB][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342166	1.00[EUR][1000 genomes]
rs12342282	1.00[MEX][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs12343325	1.00[EUR][1000 genomes]
rs12345849	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12351533	1.00[EUR][1000 genomes]
rs1330124	1.00[CHB][hapmap]
rs1411949	1.00[EUR][1000 genomes]
rs1993912	1.00[CHB][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs28431078	1.00[EUR][1000 genomes]
rs28706504	1.00[EUR][1000 genomes]
rs380568	1.00[CHB][hapmap]
rs386775	1.00[EUR][1000 genomes]
rs57154492	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58291302	1.00[EUR][1000 genomes]
rs60037728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022080	1.00[EUR][1000 genomes]
rs7029847	1.00[EUR][1000 genomes]
rs73383109	1.00[EUR][1000 genomes]
rs73383113	1.00[EUR][1000 genomes]
rs73383114	1.00[EUR][1000 genomes]
rs73383144	1.00[EUR][1000 genomes]
rs73385128	1.00[EUR][1000 genomes]
rs73389036	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389044	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397307	1.00[EUR][1000 genomes]
rs73397376	1.00[EUR][1000 genomes]
rs73399307	1.00[EUR][1000 genomes]
rs73639554	1.00[EUR][1000 genomes]
rs73639568	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853706	0.81[AMR][1000 genomes]
rs7854980	1.00[EUR][1000 genomes]
rs7858084	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7858846	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7859471	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7875607	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9299025	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6023200-6029800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:6024400-6029200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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