Variant report

Variant	esv3452436
Chromosome Location	chr1:113036602-113038039
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	chr1:113034961..113036793-chr1:113158918..113161759,2	K562	blood:

Variant related genes	Relation type
ENSG00000007341	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 100 )

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	rs188602745	chr1:113036619-113036620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114359725	chr1:113036642-113036643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79832592	chr1:113036648-113036649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191654466	chr1:113036649-113036650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527334988	chr1:113036657-113036658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546982617	chr1:113036658-113036659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570449817	chr1:113036680-113036681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539327602	chr1:113036700-113036701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144007878	chr1:113036763-113036764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184609607	chr1:113036801-113036802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532252602	chr1:113036804-113036805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541829989	chr1:113036825-113036826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535256162	chr1:113036837-113036838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549323020	chr1:113036846-113036847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188878226	chr1:113036854-113036855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146450887	chr1:113036855-113036856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140751797	chr1:113036857-113036858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58232480	chr1:113036887-113036888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369132764	chr1:113036898-113036899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182568919	chr1:113036921-113036922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60459479	chr1:113036942-113036943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562997853	chr1:113036946-113036947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57870882	chr1:113036987-113036988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564022335	chr1:113036988-113036989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542056924	chr1:113037002-113037003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57660177	chr1:113037015-113037016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148882045	chr1:113037118-113037119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35469733	chr1:113037139-113037140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115283733	chr1:113037197-113037198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147003781	chr1:113037344-113037345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532734586	chr1:113037352-113037353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78032946	chr1:113037364-113037365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569847856	chr1:113037393-113037394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535679683	chr1:113037418-113037419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555256129	chr1:113037426-113037427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187178949	chr1:113037452-113037453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534308482	chr1:113037523-113037524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116274670	chr1:113037610-113037611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577318456	chr1:113037615-113037616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189578640	chr1:113037786-113037787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138223590	chr1:113037898-113037899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112326477	chr1:113037911-113037912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180806543	chr1:113037924-113037925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561928049	chr1:113037925-113037926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376137067	chr1:113037926-113037927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572278029	chr1:113037936-113037937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185950364	chr1:113037937-113037938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143822295	chr1:113037967-113037968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532769858	chr1:113038002-113038003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190196166	chr1:113038009-113038010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113033000-113044000	Weak transcription	Rectal Mucosa Donor 31	rectum

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