Variant report

Variant	esv3337476
Chromosome Location	chr12:29437168-29437379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29436722..29437227-chr8:43092930..43093430,2	MCF-7	breast:
2	chr12:29435723..29438704-chr8:43094408..43095931,2	K562	blood:
3	chr12:29436726..29437705-chr8:43092410..43092910,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549055514	chr12:29437184-29437185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184918332	chr12:29437206-29437207	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10771511	chr12:29437217-29437218	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79808661	chr12:29437227-29437228	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs112906088	chr12:29437228-29437229	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140129970	chr12:29437282-29437283	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571532892	chr12:29437288-29437289	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538845514	chr12:29437312-29437313	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552682675	chr12:29437331-29437332	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Acute lymphoblastic leukemia	21248843	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
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:29422000-29455600	Weak transcription	Left Ventricle	heart
3	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:29426600-29440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:29426800-29440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:29427000-29452200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
9	chr12:29427800-29438400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:29429000-29460200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:29429200-29463600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:29429400-29460400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:29432200-29442800	Weak transcription	Psoas Muscle	Psoas
14	chr12:29432400-29438400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:29432800-29445800	Weak transcription	Primary B cells from cord blood	blood
16	chr12:29434200-29449600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:29434400-29439000	Enhancers	Osteobl	bone
18	chr12:29435400-29439000	Weak transcription	HSMMtube	muscle
19	chr12:29435400-29439600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:29435400-29467200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:29435800-29439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:29436000-29437800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:29436000-29440800	Weak transcription	HSMM	muscle
24	chr12:29436400-29438800	Enhancers	NHDF-Ad	bronchial
25	chr12:29436400-29443200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:29436600-29437200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:29436600-29437400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:29436600-29437600	Enhancers	NH-A	brain
29	chr12:29436800-29437200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:29436800-29437400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:29437200-29437600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr12:29437200-29438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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