Variant report

Variant	esv3384446
Chromosome Location	chr1:69983614-69985462
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	chr1:69984546..69987365-chr1:70114241..70116970,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6424550	chr1:69983647-69983648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7516848	chr1:69983695-69983696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576589106	chr1:69983705-69983706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150240679	chr1:69983728-69983729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552762033	chr1:69983738-69983739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572871743	chr1:69983749-69983750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541493374	chr1:69983755-69983756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542589078	chr1:69983770-69983771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138951776	chr1:69983775-69983776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181488616	chr1:69983788-69983789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560847907	chr1:69983906-69983907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544875366	chr1:69983926-69983927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564681230	chr1:69983963-69983964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6703413	chr1:69983981-69983982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533532286	chr1:69983995-69983996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564323023	chr1:69984022-69984023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186966936	chr1:69984083-69984084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7519484	chr1:69984089-69984090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558297247	chr1:69984103-69984104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578132178	chr1:69984111-69984112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568864433	chr1:69984133-69984134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371133162	chr1:69984166-69984167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61782177	chr1:69984197-69984198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536957199	chr1:69984198-69984199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61528928	chr1:69984204-69984205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181833871	chr1:69984210-69984211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11799666	chr1:69984216-69984217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553114742	chr1:69984218-69984219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138713200	chr1:69984259-69984260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72934423	chr1:69984260-69984261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75583094	chr1:69984272-69984273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572890695	chr1:69984280-69984281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71071358	chr1:69984283-69984284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543863515	chr1:69984286-69984287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376995919	chr1:69984287-69984288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575176331	chr1:69984296-69984297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71071359	chr1:69984318-69984319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144604972	chr1:69984321-69984322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138506840	chr1:69984325-69984326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202196201	chr1:69984326-69984327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11802897	chr1:69984327-69984328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6703813	chr1:69984334-69984335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200179786	chr1:69984340-69984341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189597705	chr1:69984349-69984350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56245199	chr1:69984351-69984352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55813596	chr1:69984354-69984355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529371222	chr1:69984356-69984357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55762561	chr1:69984360-69984361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545705127	chr1:69984367-69984368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11799691	chr1:69984370-69984371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69972800-69986200	Weak transcription	K562	blood

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