Variant report

Variant	esv3347128
Chromosome Location	chr1:160870639-160871628
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	chr1:160869759..160871916-chr1:160873094..160874895,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560926898	chr1:160870642-160870643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117706112	chr1:160870701-160870702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571941032	chr1:160870711-160870712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201958453	chr1:160870744-160870745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537764189	chr1:160870760-160870761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11265512	chr1:160870841-160870842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556087861	chr1:160870848-160870849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370817718	chr1:160870903-160870904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373883932	chr1:160870921-160870922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532350721	chr1:160870935-160870936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551924947	chr1:160870940-160870941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117408543	chr1:160870956-160870957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537739226	chr1:160870974-160870975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548225304	chr1:160870976-160870977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78727645	chr1:160870977-160870978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573980333	chr1:160870997-160870998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186968584	chr1:160871033-160871034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190602791	chr1:160871089-160871090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570831558	chr1:160871090-160871091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74617414	chr1:160871119-160871120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183524992	chr1:160871134-160871135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540044626	chr1:160871157-160871158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556751004	chr1:160871163-160871164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576846843	chr1:160871180-160871181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536343120	chr1:160871182-160871183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79749222	chr1:160871271-160871272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554294130	chr1:160871280-160871281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544578825	chr1:160871283-160871284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561058313	chr1:160871303-160871304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553092684	chr1:160871307-160871308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560214368	chr1:160871364-160871365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143241562	chr1:160871397-160871398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148364169	chr1:160871398-160871399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187975151	chr1:160871476-160871477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574698766	chr1:160871607-160871608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160870200-160875600	Weak transcription	Spleen	Spleen
2	chr1:160871400-160871600	Enhancers	Right Atrium	heart
3	chr1:160871600-160872000	Enhancers	Ovary	ovary
4	chr1:160871600-160874200	Weak transcription	Right Atrium	heart

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