Variant report

Variant	rs73421628
Chromosome Location	chr12:123314287-123314288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123313753..123316707-chr12:123318570..123321464,4	MCF-7	breast:
2	chr12:123312008..123315586-chr12:123318502..123321781,4	K562	blood:
3	chr12:123312382..123316622-chr12:123318766..123321741,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs34647278	1.00[AMR][1000 genomes]
rs35245907	1.00[AMR][1000 genomes]
rs57023093	1.00[AMR][1000 genomes]
rs58901651	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	1.00[AMR][1000 genomes]
rs60448869	1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AMR][1000 genomes]
rs73406914	1.00[AMR][1000 genomes]
rs73406940	1.00[AMR][1000 genomes]
rs73406948	1.00[AMR][1000 genomes]
rs73406954	1.00[AMR][1000 genomes]
rs73406957	1.00[AMR][1000 genomes]
rs73406959	1.00[AMR][1000 genomes]
rs73406973	1.00[AMR][1000 genomes]
rs73406977	1.00[AMR][1000 genomes]
rs73415564	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	1.00[AMR][1000 genomes]
rs73421661	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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123305800-123318800	Weak transcription	Pancreas	Pancrea
2	chr12:123310400-123319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:123311000-123315200	Weak transcription	K562	blood
4	chr12:123311000-123318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:123311200-123315200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:123311200-123318200	Weak transcription	Fetal Brain Female	brain
7	chr12:123311200-123319000	Weak transcription	Aorta	Aorta
8	chr12:123311400-123315400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:123311400-123315600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:123311400-123318800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:123311600-123315200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:123311600-123315600	Weak transcription	NHLF	lung
13	chr12:123311600-123318800	Weak transcription	NHDF-Ad	bronchial
14	chr12:123312200-123315200	Weak transcription	NHEK	skin
15	chr12:123312200-123318800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:123312400-123315200	Weak transcription	A549	lung
17	chr12:123312400-123315600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:123312400-123318800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:123312400-123318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:123312400-123318800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:123312400-123318800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:123312400-123318800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:123312600-123315200	Weak transcription	Stomach Mucosa	stomach
24	chr12:123312600-123318800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:123313400-123314400	Enhancers	Fetal Brain Male	brain
26	chr12:123313400-123314600	Enhancers	Fetal Heart	heart
27	chr12:123313800-123319200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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