Variant report

Variant	esv3335788
Chromosome Location	chr1:85420518-85421092
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	chr1:85420041..85422749-chr1:85426305..85427905,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565015021	chr1:85420557-85420558	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574801564	chr1:85420647-85420648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530686004	chr1:85420674-85420675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544014308	chr1:85420688-85420689	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560706135	chr1:85420739-85420740	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529347563	chr1:85420765-85420766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549204536	chr1:85420777-85420778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543565162	chr1:85420836-85420837	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145495331	chr1:85420872-85420873	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528459353	chr1:85420957-85420958	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140301849	chr1:85420958-85420959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145220142	chr1:85420988-85420989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111706111	chr1:85420998-85420999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184217454	chr1:85421031-85421032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs473957	chr1:85421042-85421043	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs567857912	chr1:85421047-85421048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559570815	chr1:85421054-85421055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85411400-85426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:85412000-85424600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:85412000-85425200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:85412200-85430200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:85416200-85435400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:85417200-85425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:85417200-85425000	Strong transcription	GM12878-XiMat	blood
8	chr1:85417200-85428600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:85418800-85420600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:85420000-85421000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:85421000-85422000	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links