Variant report

Variant	esv2419048
Chromosome Location	chr12:32556536-32556537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32551819..32553534-chr12:32555515..32557617,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113831633	chr12:32556536-32556537	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32553400-32572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:32553400-32572200	Weak transcription	HSMMtube	muscle
3	chr12:32553400-32572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32553600-32572600	Weak transcription	Esophagus	oesophagus
5	chr12:32553800-32571600	Weak transcription	Left Ventricle	heart
6	chr12:32554000-32572200	Weak transcription	Right Ventricle	heart
7	chr12:32554200-32559600	Weak transcription	A549	lung
8	chr12:32554200-32561200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:32554200-32566400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:32554200-32571800	Weak transcription	Ovary	ovary
11	chr12:32554200-32573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:32554400-32556800	Weak transcription	Colonic Mucosa	Colon
13	chr12:32554400-32559800	Weak transcription	Psoas Muscle	Psoas
14	chr12:32554600-32557000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:32554600-32572400	Weak transcription	Fetal Intestine Large	intestine
16	chr12:32554600-32593200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:32554800-32556800	Weak transcription	Liver	Liver
18	chr12:32555200-32556600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:32555200-32556600	Enhancers	Stomach Mucosa	stomach
20	chr12:32555200-32557200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:32555200-32557600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:32555200-32557600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:32555400-32556600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:32555400-32558400	Weak transcription	Gastric	stomach
25	chr12:32555400-32571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:32555400-32572000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:32555600-32556600	Weak transcription	Pancreas	Pancrea
28	chr12:32555600-32556600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:32555600-32557600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:32555600-32558600	Weak transcription	Adipose Nuclei	Adipose
31	chr12:32555600-32571400	Weak transcription	Lung	lung
32	chr12:32555800-32557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:32556000-32556600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:32556000-32571800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:32556200-32556600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:32556200-32557600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:32556200-32561600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:32556400-32556600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:32556400-32557000	Genic enhancers	H1 Cell Line	embryonic stem cell
40	chr12:32556400-32557000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:32556400-32557200	Weak transcription	NHEK	skin
42	chr12:32556400-32557400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:32556400-32557600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:32556400-32558400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:32556400-32561600	Weak transcription	Fetal Intestine Small	intestine
46	chr12:32556400-32562600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:32556400-32571600	Weak transcription	HMEC	breast

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