Variant report

Variant	rs57423894
Chromosome Location	chr12:50333675-50333676
allele	C/G
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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17119741	1.00[EUR][1000 genomes]
rs2232209	1.00[EUR][1000 genomes]
rs297903	1.00[EUR][1000 genomes]
rs297904	1.00[EUR][1000 genomes]
rs297908	1.00[EUR][1000 genomes]
rs297912	1.00[EUR][1000 genomes]
rs297915	1.00[EUR][1000 genomes]
rs364895	1.00[EUR][1000 genomes]
rs440721	1.00[EUR][1000 genomes]
rs487193	1.00[EUR][1000 genomes]
rs55853170	1.00[EUR][1000 genomes]
rs7304815	1.00[EUR][1000 genomes]
rs74089213	1.00[EUR][1000 genomes]
rs74091125	1.00[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:25 , 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	chr12:50331800-50334000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:50332400-50336800	Weak transcription	Gastric	stomach
10	chr12:50332600-50336200	Weak transcription	NHEK	skin
11	chr12:50332600-50336800	Weak transcription	HMEC	breast
12	chr12:50332800-50336800	Weak transcription	Pancreas	Pancrea
13	chr12:50333000-50333800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:50333200-50334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:50333400-50333800	Enhancers	Right Atrium	heart
16	chr12:50333400-50333800	Enhancers	HepG2	liver
17	chr12:50333400-50334000	Enhancers	Lung	lung
18	chr12:50333400-50334000	Weak transcription	HSMMtube	muscle
19	chr12:50333400-50336400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:50333600-50333800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:50333600-50333800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:50333600-50333800	Enhancers	Fetal Lung	lung
23	chr12:50333600-50334000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:50333600-50334000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:50333600-50334000	Enhancers	Stomach Mucosa	stomach

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