Variant report

Variant	nsv972978
Chromosome Location	chr12:29358053-29358553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144349231	chr12:29358096-29358097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1908691	chr12:29358133-29358134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs576047752	chr12:29358172-29358173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146455786	chr12:29358179-29358180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10492384	chr12:29358209-29358210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375323376	chr12:29358222-29358223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73265800	chr12:29358223-29358224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559569744	chr12:29358228-29358229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557341434	chr12:29358287-29358288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1908690	chr12:29358294-29358295	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs548322669	chr12:29358311-29358312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569226673	chr12:29358317-29358318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10431273	chr12:29358337-29358338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531886119	chr12:29358338-29358339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143559631	chr12:29358364-29358365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550277701	chr12:29358410-29358411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7315643	chr12:29358455-29358456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573405537	chr12:29358480-29358481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539002777	chr12:29358532-29358533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547799275	chr12:29358538-29358539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:29346000-29360800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:29354000-29360400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:29355800-29359000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:29357000-29359600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:29357200-29359400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:29357400-29360200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:29357600-29359600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:29357800-29359000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:29357800-29360400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:29358000-29358200	Enhancers	Primary B cells from cord blood	blood
12	chr12:29358000-29362400	Weak transcription	Primary T cells from cord blood	blood
13	chr12:29358200-29361600	Weak transcription	Primary B cells from cord blood	blood
14	chr12:29358400-29362000	Enhancers	Primary hematopoietic stem cells	blood

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