Variant report

Variant	rs551759376
Chromosome Location	chr12:123616552-123616553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123464971..123468188-chr12:123616401..123619545,3	K562	blood:
2	chr12:123616297..123618408-chr12:123632574..123634282,2	MCF-7	breast:
3	chr12:123606578..123609503-chr12:123615590..123618245,2	MCF-7	breast:
4	chr12:123616507..123619286-chr12:123631305..123632986,2	K562	blood:
5	chr12:123610238..123613639-chr12:123613854..123616666,3	K562	blood:

Variant related genes	Relation type
ENSG00000182196	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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
2	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
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers 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 target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:123599200-123624600	Weak transcription	Fetal Brain Female	brain
3	chr12:123605800-123624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:123607600-123619600	Genic enhancers	Fetal Thymus	thymus
5	chr12:123610000-123620400	Enhancers	Placenta	Placenta
6	chr12:123611000-123617400	Enhancers	Primary B cells from cord blood	blood
7	chr12:123611400-123624400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:123611600-123616600	Weak transcription	Liver	Liver
9	chr12:123611600-123617400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:123611800-123616600	Weak transcription	GM12878-XiMat	blood
11	chr12:123611800-123618000	Enhancers	A549	lung
12	chr12:123611800-123624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:123611800-123624400	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:123611800-123624600	Weak transcription	Aorta	Aorta
15	chr12:123612000-123617400	Weak transcription	HepG2	liver
16	chr12:123612000-123618600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:123612000-123624000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:123612000-123624600	Weak transcription	NH-A	brain
19	chr12:123613600-123620400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:123614000-123617000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:123614000-123619200	Enhancers	NHEK	skin
22	chr12:123614200-123616600	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:123614200-123618000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:123614200-123620400	Enhancers	HMEC	breast
25	chr12:123614400-123616800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:123614600-123616600	Enhancers	Fetal Intestine Large	intestine
27	chr12:123614600-123616800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:123614600-123618000	Enhancers	NHDF-Ad	bronchial
29	chr12:123614800-123617000	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:123614800-123617000	Enhancers	Left Ventricle	heart
31	chr12:123614800-123618000	Enhancers	Fetal Muscle Leg	muscle
32	chr12:123614800-123618200	Enhancers	Dnd41	blood
33	chr12:123615000-123617600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:123615200-123617800	Enhancers	Fetal Heart	heart
35	chr12:123615200-123618200	Enhancers	Esophagus	oesophagus
36	chr12:123615400-123617000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:123615400-123617000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:123615400-123617000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:123615400-123617000	Enhancers	Lung	lung
40	chr12:123615400-123617000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr12:123615400-123617000	Enhancers	Hela-S3	cervix
42	chr12:123615400-123617600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:123615400-123618000	Enhancers	HSMM	muscle
44	chr12:123615400-123620200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:123615600-123616600	Enhancers	NHLF	lung
46	chr12:123615600-123616800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:123615600-123616800	Enhancers	Adipose Nuclei	Adipose
48	chr12:123615600-123616800	Enhancers	Osteobl	bone
49	chr12:123615600-123617000	Enhancers	Right Ventricle	heart
50	chr12:123615600-123617400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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