Variant report

Variant	esv8875
Chromosome Location	chr1:160934769-160935578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571831253	chr1:160934797-160934798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72712828	chr1:160934798-160934799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373669805	chr1:160934800-160934801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1023115	chr1:160934819-160934820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs369964025	chr1:160934842-160934843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35499849	chr1:160934862-160934863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547189049	chr1:160934873-160934874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373980690	chr1:160934883-160934884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142916386	chr1:160934894-160934895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535890729	chr1:160934907-160934908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543580802	chr1:160934946-160934947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540692513	chr1:160934949-160934950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180916274	chr1:160934958-160934959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61802214	chr1:160934963-160934964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371221063	chr1:160934967-160934968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77570079	chr1:160935036-160935037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74824016	chr1:160935037-160935038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78159229	chr1:160935040-160935041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574177636	chr1:160935050-160935051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112206423	chr1:160935111-160935112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112915935	chr1:160935121-160935122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111854785	chr1:160935124-160935125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112444838	chr1:160935128-160935129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573417149	chr1:160935146-160935147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542341510	chr1:160935156-160935157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553159575	chr1:160935175-160935176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572950502	chr1:160935176-160935177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545328518	chr1:160935189-160935190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565187621	chr1:160935197-160935198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530781666	chr1:160935200-160935201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111921004	chr1:160935207-160935208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112768561	chr1:160935231-160935232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113909921	chr1:160935234-160935235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543223699	chr1:160935241-160935242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111448850	chr1:160935242-160935243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111900736	chr1:160935249-160935250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113633083	chr1:160935253-160935254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112671485	chr1:160935266-160935267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544642522	chr1:160935272-160935273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561234211	chr1:160935274-160935275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530254011	chr1:160935278-160935279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546773436	chr1:160935306-160935307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76076419	chr1:160935319-160935320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75452934	chr1:160935335-160935336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77743448	chr1:160935336-160935337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371688550	chr1:160935387-160935388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559769801	chr1:160935404-160935405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532603550	chr1:160935433-160935434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528766378	chr1:160935437-160935438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552689425	chr1:160935440-160935441	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160931000-160942000	Weak transcription	H9 Cell Line	embryonic stem cell

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