Variant report

Variant	rs572144228
Chromosome Location	chr12:123312377-123312378
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123303686..123306073-chr12:123311206..123312843,2	MCF-7	breast:
2	chr12:123311180..123313487-chr12:123316149..123318304,2	K562	blood:
3	chr12:123312008..123315586-chr12:123318502..123321781,4	K562	blood:
4	chr12:123311285..123313219-chr12:123325523..123328002,2	MCF-7	breast:
5	chr12:123310638..123313614-chr12:123319077..123320937,3	MCF-7	breast:
6	chr12:123310760..123313815-chr12:123319120..123321781,3	K562	blood:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:35 , 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	chr12:123311200-123312600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:123311200-123312600	Enhancers	Stomach Mucosa	stomach
7	chr12:123311200-123313400	Weak transcription	Fetal Heart	heart
8	chr12:123311200-123315200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:123311200-123318200	Weak transcription	Fetal Brain Female	brain
10	chr12:123311200-123319000	Weak transcription	Aorta	Aorta
11	chr12:123311400-123313600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:123311400-123315400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:123311400-123315600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:123311400-123318800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:123311600-123312400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:123311600-123312400	Enhancers	Brain Anterior Caudate	brain
17	chr12:123311600-123312400	Enhancers	Fetal Intestine Small	intestine
18	chr12:123311600-123312400	Enhancers	A549	lung
19	chr12:123311600-123315200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:123311600-123315600	Weak transcription	NHLF	lung
21	chr12:123311600-123318800	Weak transcription	NHDF-Ad	bronchial
22	chr12:123312000-123312400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr12:123312000-123312400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:123312000-123312400	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:123312000-123312400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:123312000-123312400	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:123312000-123312400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:123312000-123312400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:123312000-123312400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:123312000-123312400	Enhancers	Brain Substantia Nigra	brain
31	chr12:123312200-123312400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:123312200-123312400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:123312200-123312400	Enhancers	HepG2	liver
34	chr12:123312200-123315200	Weak transcription	NHEK	skin
35	chr12:123312200-123318800	Weak transcription	Rectal Mucosa Donor 31	rectum

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