Variant report

Variant	esv3347433
Chromosome Location	chr1:241950326-241950701
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	chr1:241938342..241941213-chr1:241948458..241951421,2	MCF-7	breast:
2	chr1:241950020..241951757-chr1:241963779..241966195,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192570305	chr1:241950371-241950372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183687622	chr1:241950384-241950385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558654934	chr1:241950385-241950386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372327413	chr1:241950423-241950424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534549772	chr1:241950437-241950438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189462330	chr1:241950438-241950439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150776052	chr1:241950472-241950473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371012784	chr1:241950473-241950474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67336689	chr1:241950501-241950502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544613090	chr1:241950502-241950503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397983539	chr1:241950516-241950517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12120093	chr1:241950523-241950524	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540137028	chr1:241950526-241950527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9428891	chr1:241950601-241950602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532174387	chr1:241950615-241950616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6676276	chr1:241950623-241950624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377529642	chr1:241950663-241950664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60469099	chr1:241950680-241950681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112910335	chr1:241950681-241950682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Glioblastoma	18772890	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Brain overgrowth syndrome	24179207	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241947600-241950400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:241948200-241952600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:241949200-241951200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:241949200-241951400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:241950200-241951400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:241950400-241951400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links