Variant report

Variant	rs74091499
Chromosome Location	chr12:56456827-56456828
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	chr12:56435442..56437276-chr12:56456359..56458729,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257449	Chromatin interaction
ENSG00000197728	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11834038	1.00[AMR][1000 genomes]
rs11835054	1.00[AMR][1000 genomes]
rs1508211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2271195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35807059	1.00[AMR][1000 genomes]
rs55665206	0.84[AFR][1000 genomes]
rs55771348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56983027	1.00[AMR][1000 genomes]
rs59881826	0.84[AFR][1000 genomes]
rs60419159	1.00[AMR][1000 genomes]
rs61186183	1.00[AMR][1000 genomes]
rs61644900	0.84[AFR][1000 genomes]
rs61695444	1.00[AMR][1000 genomes]
rs73338396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338402	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091480	0.84[AFR][1000 genomes]
rs74091489	0.84[AFR][1000 genomes]
rs74091490	0.84[AFR][1000 genomes]
rs74092004	1.00[AMR][1000 genomes]
rs74092007	1.00[AMR][1000 genomes]
rs74092015	1.00[AMR][1000 genomes]
rs74094517	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094522	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094539	1.00[AMR][1000 genomes]

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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56454400-56457000	Weak transcription	Osteobl	bone
3	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56456000-56465800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:56456200-56457400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:56456400-56457200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:56456400-56457200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:56456600-56457200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:56456600-56457200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:56456600-56457200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:56456600-56457200	Enhancers	HMEC	breast
12	chr12:56456800-56457400	Enhancers	HUVEC	blood vessel

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