Variant report

Variant	esv2523588
Chromosome Location	chr1:153036218-153037761
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	chr1:153034986..153036506-chr6:26033157..26034818,2	K562	blood:

Variant related genes	Relation type
ENSG00000137259	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114039367	chr1:153036233-153036234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs821755	chr1:153036245-153036246	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554360092	chr1:153036258-153036259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574255037	chr1:153036274-153036275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139285741	chr1:153036375-153036376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149987768	chr1:153036378-153036379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs310096	chr1:153036391-153036392	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145167757	chr1:153036405-153036406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548833434	chr1:153036409-153036410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559370637	chr1:153036436-153036437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184940435	chr1:153036458-153036459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550457157	chr1:153036470-153036471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541710899	chr1:153036481-153036482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561475477	chr1:153036487-153036488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530267496	chr1:153036543-153036544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112932908	chr1:153036545-153036546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189789954	chr1:153036558-153036559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570170582	chr1:153036683-153036684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532482723	chr1:153036694-153036695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552567670	chr1:153036704-153036705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565704890	chr1:153036782-153036783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150779269	chr1:153036884-153036885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534613499	chr1:153036893-153036894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376995068	chr1:153036987-153036988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183063094	chr1:153037019-153037020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61811887	chr1:153037043-153037044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556865594	chr1:153037048-153037049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569094641	chr1:153037063-153037064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78819694	chr1:153037085-153037086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545553480	chr1:153037092-153037093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553018071	chr1:153037106-153037107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572833944	chr1:153037113-153037114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187785618	chr1:153037237-153037238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553071514	chr1:153037247-153037248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6680061	chr1:153037366-153037367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs310097	chr1:153037386-153037387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs310098	chr1:153037463-153037464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144141122	chr1:153037466-153037467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532658817	chr1:153037469-153037470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76242043	chr1:153037521-153037522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191792920	chr1:153037535-153037536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528513716	chr1:153037538-153037539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146498450	chr1:153037541-153037542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183635999	chr1:153037589-153037590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6677674	chr1:153037601-153037602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs116127183	chr1:153037608-153037609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188184180	chr1:153037691-153037692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141003997	chr1:153037692-153037693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568412569	chr1:153037693-153037694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553054791	chr1:153037702-153037703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	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	chr1:153032200-153053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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