Variant report

Variant	rs73096509
Chromosome Location	chr12:39935599-39935600
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:39935394-39935872	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:39835315..39837704-chr12:39933049..39935834,3	K562	blood:
2	chr12:39935467..39937094-chr12:40451858..40454102,2	K562	blood:
3	chr12:39933714..39935696-chr12:39937326..39938975,2	K562	blood:

Variant related genes	Relation type
ENSG00000270273	TF binding region
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1567738	1.00[AMR][1000 genomes]
rs73086879	1.00[AMR][1000 genomes]
rs73086887	1.00[AMR][1000 genomes]
rs73086888	1.00[AMR][1000 genomes]
rs73086895	1.00[AMR][1000 genomes]
rs73086896	1.00[AMR][1000 genomes]
rs73088803	1.00[AMR][1000 genomes]
rs73088804	1.00[AMR][1000 genomes]
rs73088806	1.00[AMR][1000 genomes]
rs73088808	1.00[AMR][1000 genomes]
rs73088811	1.00[AMR][1000 genomes]
rs73088812	1.00[AMR][1000 genomes]
rs73094416	1.00[AMR][1000 genomes]
rs73094426	1.00[AMR][1000 genomes]
rs73094430	1.00[AMR][1000 genomes]
rs73094441	1.00[AMR][1000 genomes]
rs73094443	1.00[AMR][1000 genomes]
rs73094451	1.00[AMR][1000 genomes]
rs73094465	1.00[AMR][1000 genomes]
rs73094466	1.00[AMR][1000 genomes]
rs73094469	1.00[AMR][1000 genomes]
rs73094480	1.00[AMR][1000 genomes]
rs73094482	1.00[AMR][1000 genomes]
rs73094497	1.00[AMR][1000 genomes]
rs73094498	1.00[AMR][1000 genomes]
rs73094499	1.00[AMR][1000 genomes]
rs73094502	1.00[AMR][1000 genomes]
rs73096503	1.00[AMR][1000 genomes]
rs73096504	1.00[AMR][1000 genomes]
rs73096507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096542	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096551	1.00[AMR][1000 genomes]
rs73096571	1.00[AMR][1000 genomes]
rs73096578	1.00[AMR][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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1048933	chr12:39886665-39946270	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39934600-39936000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:39935000-39935600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:39935400-39946400	Weak transcription	Primary T cells fromperipheralblood	blood

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