Variant report

Variant	esv7992
Chromosome Location	chr1:158711800-158712613
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	chr1:158699118..158701949-chr1:158709331..158711984,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34276001	chr1:158711801-158711802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538252683	chr1:158711820-158711821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556648442	chr1:158711831-158711832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111511618	chr1:158711833-158711834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137953893	chr1:158711839-158711840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2820133	chr1:158711851-158711852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7523577	chr1:158711853-158711854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2779111	chr1:158711861-158711862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545778258	chr1:158711866-158711867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549825343	chr1:158711876-158711877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78117398	chr1:158711895-158711896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371569983	chr1:158711989-158711990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190731707	chr1:158712011-158712012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377534770	chr1:158712048-158712049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531158623	chr1:158712067-158712068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77463218	chr1:158712071-158712072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561410445	chr1:158712139-158712140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528938180	chr1:158712140-158712141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548701557	chr1:158712199-158712200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547495792	chr1:158712232-158712233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566947499	chr1:158712235-158712236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527926253	chr1:158712251-158712252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552553945	chr1:158712276-158712277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568523924	chr1:158712307-158712308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61765919	chr1:158712341-158712342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113116988	chr1:158712342-158712343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113315560	chr1:158712353-158712354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372356429	chr1:158712405-158712406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2518516	chr1:158712493-158712494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570051515	chr1:158712502-158712503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2820132	chr1:158712510-158712511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187503828	chr1:158712540-158712541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568503146	chr1:158712566-158712567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192741616	chr1:158712602-158712603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
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
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	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	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158692600-158735200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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