Variant report

Variant	esv10507
Chromosome Location	chr1:153134866-153136100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2455009	chr1:153134875-153134876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568728560	chr1:153134883-153134884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537257420	chr1:153134905-153134906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1697431	chr1:153134910-153134911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs570633380	chr1:153134942-153134943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1625198	chr1:153134979-153134980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114747224	chr1:153134980-153134981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1697430	chr1:153134987-153134988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77668680	chr1:153135100-153135101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56738724	chr1:153135101-153135102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386368332	chr1:153135106-153135107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397759270	chr1:153135107-153135108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs503914	chr1:153135119-153135120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371691104	chr1:153135142-153135143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192237228	chr1:153135146-153135147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79821197	chr1:153135159-153135160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544420877	chr1:153135179-153135180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564245485	chr1:153135197-153135198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547167732	chr1:153135269-153135270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556824	chr1:153135361-153135362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79255574	chr1:153135375-153135376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112259216	chr1:153135422-153135423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569854013	chr1:153135429-153135430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183899894	chr1:153135441-153135442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555926	chr1:153135459-153135460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs571739080	chr1:153135502-153135503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187182353	chr1:153135512-153135513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550779888	chr1:153135514-153135515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74905097	chr1:153135523-153135524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533329256	chr1:153135535-153135536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79199111	chr1:153135549-153135550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78899505	chr1:153135567-153135568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535489527	chr1:153135590-153135591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555683929	chr1:153135607-153135608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569194101	chr1:153135629-153135630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74426713	chr1:153135673-153135674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75301937	chr1:153135678-153135679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114757498	chr1:153135707-153135708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78579400	chr1:153135711-153135712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371352814	chr1:153135727-153135728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150890886	chr1:153135767-153135768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553175	chr1:153135780-153135781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs200715478	chr1:153135787-153135788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576516651	chr1:153135816-153135817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191239032	chr1:153135880-153135881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377555806	chr1:153135923-153135924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78863127	chr1:153135933-153135934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184136456	chr1:153135936-153135937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139360830	chr1:153135938-153135939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs475182	chr1:153135946-153135947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:118)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153132800-153137200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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