Variant report

Variant	rs370472792
Chromosome Location	chr12:123617606-123617607
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	chr12:123616804..123619547-chr12:123619557..123621511,2	K562	blood:
4	chr12:123606578..123609503-chr12:123615590..123618245,2	MCF-7	breast:
5	chr12:123616507..123619286-chr12:123631305..123632986,2	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:89 , 50 per page) page: 1 2

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	chr12:123611400-123624400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:123611800-123618000	Enhancers	A549	lung
8	chr12:123611800-123624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:123611800-123624400	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:123611800-123624600	Weak transcription	Aorta	Aorta
11	chr12:123612000-123618600	Weak transcription	Fetal Intestine Small	intestine
12	chr12:123612000-123624000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123612000-123624600	Weak transcription	NH-A	brain
14	chr12:123613600-123620400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:123614000-123619200	Enhancers	NHEK	skin
16	chr12:123614200-123618000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:123614200-123620400	Enhancers	HMEC	breast
18	chr12:123614600-123618000	Enhancers	NHDF-Ad	bronchial
19	chr12:123614800-123618000	Enhancers	Fetal Muscle Leg	muscle
20	chr12:123614800-123618200	Enhancers	Dnd41	blood
21	chr12:123615200-123617800	Enhancers	Fetal Heart	heart
22	chr12:123615200-123618200	Enhancers	Esophagus	oesophagus
23	chr12:123615400-123618000	Enhancers	HSMM	muscle
24	chr12:123615400-123620200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:123615600-123618000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:123615800-123618200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:123615800-123618200	Enhancers	Colon Smooth Muscle	Colon
28	chr12:123616000-123618000	Enhancers	K562	blood
29	chr12:123616400-123618800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:123616400-123624200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:123616600-123617800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:123616600-123618200	Enhancers	HSMMtube	muscle
33	chr12:123616600-123619400	Weak transcription	Fetal Lung	lung
34	chr12:123616600-123624200	Weak transcription	Fetal Intestine Large	intestine
35	chr12:123616600-123624400	Weak transcription	Small Intestine	intestine
36	chr12:123616600-123624600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:123616600-123624600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:123616800-123618000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:123616800-123618000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:123616800-123618000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:123616800-123618800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:123616800-123618800	Weak transcription	Fetal Stomach	stomach
43	chr12:123616800-123619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:123616800-123624000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:123616800-123624000	Weak transcription	Osteobl	bone
46	chr12:123616800-123624200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:123616800-123624200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:123616800-123624600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:123617000-123617800	Weak transcription	Lung	lung
50	chr12:123617000-123618000	Enhancers	Rectal Smooth Muscle	rectum

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