Variant report

Variant	rs56663692
Chromosome Location	chr12:50333578-50333579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50235218..50237601-chr12:50332141..50335428,3	MCF-7	breast:
2	chr12:50310845..50314671-chr12:50331555..50334388,3	MCF-7	breast:
3	chr12:50331211..50335185-chr12:50337113..50339426,3	MCF-7	breast:
4	chr12:50263777..50265615-chr12:50332249..50333962,2	K562	blood:

Variant related genes	Relation type
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17124174	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17124176	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50323400-50338800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:50327200-50338600	Weak transcription	Fetal Thymus	thymus
3	chr12:50328800-50335800	Weak transcription	Hela-S3	cervix
4	chr12:50330200-50333800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:50330800-50333800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:50331000-50338800	Weak transcription	Fetal Brain Female	brain
7	chr12:50331400-50334800	Enhancers	Esophagus	oesophagus
8	chr12:50331800-50333600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:50331800-50334000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:50332200-50333600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:50332400-50336800	Weak transcription	Gastric	stomach
12	chr12:50332600-50336200	Weak transcription	NHEK	skin
13	chr12:50332600-50336800	Weak transcription	HMEC	breast
14	chr12:50332800-50336800	Weak transcription	Pancreas	Pancrea
15	chr12:50333000-50333800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:50333200-50334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:50333400-50333600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr12:50333400-50333600	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:50333400-50333800	Enhancers	Right Atrium	heart
20	chr12:50333400-50333800	Enhancers	HepG2	liver
21	chr12:50333400-50334000	Enhancers	Lung	lung
22	chr12:50333400-50334000	Weak transcription	HSMMtube	muscle
23	chr12:50333400-50336400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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