Variant report

Variant	nsv820047
Chromosome Location	chr1:74835251-74835945
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	chr1:74835693..74838448-chr1:74838770..74840805,3	K562	blood:
2	chr1:74835693..74838448-chr1:74838770..74840795,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199684206	chr1:74835270-74835271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113741212	chr1:74835281-74835282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200702833	chr1:74835296-74835297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201481491	chr1:74835297-74835298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201372253	chr1:74835301-74835302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199807292	chr1:74835307-74835308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200735592	chr1:74835308-74835309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201784931	chr1:74835311-74835312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533882878	chr1:74835316-74835317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558714394	chr1:74835321-74835322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528017143	chr1:74835408-74835409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189373617	chr1:74835445-74835446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556252582	chr1:74835449-74835450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574462114	chr1:74835503-74835504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs45515598	chr1:74835530-74835531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184160524	chr1:74835538-74835539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572692368	chr1:74835564-74835565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs45494796	chr1:74835609-74835610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149335202	chr1:74835723-74835724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12037555	chr1:74835756-74835757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189576681	chr1:74835779-74835780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12034234	chr1:74835788-74835789	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113356566	chr1:74835859-74835860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181884511	chr1:74835905-74835906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370079695	chr1:74835925-74835926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199918413	chr1:74835927-74835928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200685206	chr1:74835928-74835929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201904646	chr1:74835944-74835945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74821200-74844400	Weak transcription	Right Ventricle	heart
2	chr1:74829400-74847800	Weak transcription	Aorta	Aorta
3	chr1:74830600-74840800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:74832200-74841200	Weak transcription	Psoas Muscle	Psoas
5	chr1:74833800-74837400	Weak transcription	Ovary	ovary
6	chr1:74834000-74836400	Weak transcription	Liver	Liver
7	chr1:74834200-74835400	Strong transcription	Left Ventricle	heart
8	chr1:74835000-74836800	Strong transcription	Fetal Heart	heart
9	chr1:74835400-74846000	Weak transcription	Left Ventricle	heart

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