Variant report

Variant	esv2513593
Chromosome Location	chr1:92936841-92938242
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	chr1:92934323..92938019-chr1:92941663..92943919,3	K562	blood:
2	chr1:35658099..35658720-chr1:92937690..92938609,2	NB4	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529251753	chr1:92936861-92936862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141432575	chr1:92936865-92936866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540779009	chr1:92936873-92936874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573814277	chr1:92936899-92936900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576127268	chr1:92936934-92936935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189444636	chr1:92936977-92936978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111942703	chr1:92937044-92937045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574633283	chr1:92937053-92937054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568472035	chr1:92937104-92937105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369753683	chr1:92937123-92937124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564573916	chr1:92937127-92937128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563112911	chr1:92937152-92937153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372464783	chr1:92937171-92937172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545825830	chr1:92937172-92937173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564125519	chr1:92937176-92937177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528244990	chr1:92937184-92937185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548001987	chr1:92937192-92937193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562816520	chr1:92937233-92937234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182131306	chr1:92937248-92937249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530306699	chr1:92937345-92937346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148745057	chr1:92937353-92937354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564986225	chr1:92937357-92937358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534222606	chr1:92937431-92937432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6702975	chr1:92937468-92937469	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12069984	chr1:92937485-92937486	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186668021	chr1:92937514-92937515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12071033	chr1:92937575-92937576	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570607306	chr1:92937581-92937582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534828951	chr1:92937594-92937595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111509348	chr1:92937599-92937600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552874432	chr1:92937602-92937603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547892856	chr1:92937638-92937639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574599599	chr1:92937738-92937739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529812093	chr1:92937768-92937769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541677549	chr1:92937777-92937778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145627470	chr1:92937820-92937821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575616369	chr1:92937879-92937880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34412246	chr1:92937891-92937892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189640416	chr1:92937941-92937942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74101154	chr1:92937993-92937994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572960263	chr1:92938012-92938013	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6603974	chr1:92938085-92938086	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561651247	chr1:92938095-92938096	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567894087	chr1:92938150-92938151	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142868753	chr1:92938151-92938152	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536424092	chr1:92938167-92938168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549895866	chr1:92938180-92938181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548506791	chr1:92938212-92938213	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92925600-92946000	Weak transcription	Right Atrium	heart
2	chr1:92929400-92940600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:92929600-92940800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:92930600-92939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:92930600-92939400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:92930800-92944400	Weak transcription	Spleen	Spleen
7	chr1:92931000-92939000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:92931000-92939000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:92933000-92939600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:92933000-92939800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:92933200-92938200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:92933400-92938600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:92933400-92939000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:92933400-92939000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:92933400-92939000	Weak transcription	Thymus	Thymus
16	chr1:92933400-92941200	Weak transcription	Primary T cells from cord blood	blood
17	chr1:92933600-92939400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:92933600-92939600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:92933600-92939800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:92934600-92938200	Strong transcription	Fetal Thymus	thymus
21	chr1:92935000-92938200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:92936000-92938000	Strong transcription	Dnd41	blood
23	chr1:92936400-92940600	Weak transcription	HepG2	liver
24	chr1:92936600-92940600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:92937200-92939200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:92938000-92940800	Genic enhancers	Dnd41	blood
27	chr1:92938200-92938400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:92938200-92938600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:92938200-92938600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:92938200-92939800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:92938200-92940800	Genic enhancers	Fetal Thymus	thymus

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