Variant report

Variant	esv3390382
Chromosome Location	chr1:67358608-67358766
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	chr1:67356978..67359079-chr1:67361266..67364100,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371178923	chr1:67358629-67358630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57802592	chr1:67358633-67358634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549693557	chr1:67358646-67358647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3008880	chr1:67358648-67358649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71862602	chr1:67358653-67358654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60161134	chr1:67358657-67358658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563002008	chr1:67358664-67358665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56192480	chr1:67358670-67358671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61698436	chr1:67358671-67358672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12061415	chr1:67358674-67358675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557874558	chr1:67358675-67358676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60130082	chr1:67358676-67358677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530527873	chr1:67358678-67358679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71058479	chr1:67358681-67358682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12738508	chr1:67358682-67358683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190189460	chr1:67358686-67358687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369829999	chr1:67358690-67358691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539179042	chr1:67358692-67358693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56213511	chr1:67358694-67358695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546265797	chr1:67358695-67358696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375563864	chr1:67358697-67358698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55976027	chr1:67358715-67358716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60301274	chr1:67358717-67358718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60496796	chr1:67358718-67358719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4655508	chr1:67358728-67358729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12061449	chr1:67358732-67358733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12061450	chr1:67358736-67358737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71058480	chr1:67358737-67358738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56296241	chr1:67358738-67358739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376723404	chr1:67358740-67358741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370913208	chr1:67358742-67358743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56906198	chr1:67358744-67358745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4655654	chr1:67358746-67358747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60123348	chr1:67358747-67358748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55645698	chr1:67358748-67358749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71494287	chr1:67358749-67358750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12738212	chr1:67358750-67358751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56959058	chr1:67358753-67358754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67346800-67363200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:67348400-67389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:67349400-67389600	Weak transcription	Aorta	Aorta
4	chr1:67350000-67369400	Weak transcription	Fetal Kidney	kidney
5	chr1:67352200-67372600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:67352800-67385600	Weak transcription	Ovary	ovary
7	chr1:67354600-67362600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:67355800-67369400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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