Variant report

Variant	esv3434137
Chromosome Location	chr1:95470240-95471189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95465187..95468061-chr1:95468404..95471127,2	MCF-7	breast:
2	chr1:95470913..95473220-chr1:95474756..95477083,2	K562	blood:
3	chr1:95456796..95459447-chr1:95467601..95470576,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556100291	chr1:95470255-95470256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186316155	chr1:95470259-95470260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534612108	chr1:95470292-95470293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10747462	chr1:95470308-95470309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574657896	chr1:95470342-95470343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191757979	chr1:95470349-95470350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556708743	chr1:95470353-95470354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576630528	chr1:95470356-95470357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181911142	chr1:95470364-95470365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553039649	chr1:95470365-95470366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56027678	chr1:95470373-95470374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186511600	chr1:95470391-95470392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532264145	chr1:95470438-95470439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12039495	chr1:95470510-95470511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs71652600	chr1:95470521-95470522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544295553	chr1:95470536-95470537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7539139	chr1:95470537-95470538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs578054677	chr1:95470568-95470569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531621193	chr1:95470708-95470709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182691716	chr1:95470716-95470717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533554518	chr1:95470727-95470728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547259083	chr1:95470731-95470732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565749864	chr1:95470747-95470748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74101968	chr1:95470783-95470784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7527765	chr1:95470811-95470812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144247766	chr1:95470838-95470839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536900650	chr1:95470861-95470862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151066886	chr1:95470901-95470902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568304847	chr1:95470917-95470918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570453923	chr1:95470951-95470952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539246790	chr1:95470971-95470972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186678228	chr1:95470972-95470973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573252752	chr1:95470973-95470974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148865261	chr1:95470976-95470977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541979360	chr1:95470981-95470982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555685798	chr1:95470983-95470984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189914899	chr1:95471001-95471002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183319969	chr1:95471015-95471016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544655157	chr1:95471043-95471044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564764630	chr1:95471051-95471052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533693274	chr1:95471113-95471114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540816458	chr1:95471116-95471117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560538010	chr1:95471121-95471122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95447000-95490800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:95448200-95491000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:95455200-95473600	Weak transcription	Gastric	stomach
4	chr1:95459600-95473000	Weak transcription	Aorta	Aorta
5	chr1:95459600-95473000	Weak transcription	Pancreas	Pancrea
6	chr1:95460400-95478400	Weak transcription	Left Ventricle	heart
7	chr1:95464000-95473000	Weak transcription	Lung	lung
8	chr1:95468000-95472200	Weak transcription	Placenta	Placenta
9	chr1:95468000-95472800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:95468600-95482400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:95468800-95472000	Weak transcription	HSMMtube	muscle
12	chr1:95468800-95472800	Weak transcription	HMEC	breast
13	chr1:95468800-95473000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:95468800-95473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:95468800-95479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:95469000-95472000	Weak transcription	Fetal Kidney	kidney
17	chr1:95469000-95472000	Weak transcription	Fetal Stomach	stomach
18	chr1:95469000-95472200	Weak transcription	HSMM	muscle
19	chr1:95469000-95472800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:95469000-95479600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:95469200-95470800	Weak transcription	K562	blood
22	chr1:95469200-95471200	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:95469200-95472000	Weak transcription	Fetal Lung	lung
24	chr1:95469200-95472800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:95469200-95478000	Weak transcription	Ovary	ovary
26	chr1:95469200-95479600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:95469200-95487200	Weak transcription	Small Intestine	intestine
28	chr1:95469400-95470800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:95469400-95472200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:95469400-95472200	Weak transcription	NHLF	lung
31	chr1:95469400-95472600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:95469400-95478800	Weak transcription	HepG2	liver
33	chr1:95469600-95470600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:95469600-95477800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:95469600-95477800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:95469800-95472200	Weak transcription	NHEK	skin
37	chr1:95470600-95473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:95470800-95471800	Enhancers	K562	blood
39	chr1:95470800-95472400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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