Variant report

Variant	esv33988
Chromosome Location	chr1:193626177-193634262
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	chr1:193631362..193634280-chr1:193636657..193638784,2	MCF-7	breast:

Extended variants
information (count: 307 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374831075	chr1:193626212-193626213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544624675	chr1:193626290-193626291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564503691	chr1:193626324-193626325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533451498	chr1:193626359-193626360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187837052	chr1:193626392-193626393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552595282	chr1:193626396-193626397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570325045	chr1:193626400-193626401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58757690	chr1:193626456-193626457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192880203	chr1:193626532-193626533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141416387	chr1:193626548-193626549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147207916	chr1:193626549-193626550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535569613	chr1:193626579-193626580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369001081	chr1:193626710-193626711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183111610	chr1:193626728-193626729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200382237	chr1:193626787-193626788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201968136	chr1:193626790-193626791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10921401	chr1:193626801-193626802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs982101	chr1:193626806-193626807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186783838	chr1:193626865-193626866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537441715	chr1:193626872-193626873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs41528347	chr1:193626885-193626886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs573866534	chr1:193626909-193626910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370082029	chr1:193626939-193626940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112787109	chr1:193626974-193626975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553102251	chr1:193627050-193627051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545972746	chr1:193627064-193627065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564380188	chr1:193627078-193627079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544661430	chr1:193627114-193627115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564542826	chr1:193627153-193627154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375895351	chr1:193627155-193627156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75377426	chr1:193627165-193627166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573216308	chr1:193627171-193627172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6428190	chr1:193627198-193627199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377544784	chr1:193627215-193627216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529563744	chr1:193627235-193627236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549328791	chr1:193627242-193627243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71742814	chr1:193627288-193627289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566223950	chr1:193627295-193627296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191583273	chr1:193627383-193627384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559813306	chr1:193627477-193627478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114887929	chr1:193627487-193627488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571763296	chr1:193627494-193627495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537478551	chr1:193627506-193627507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557303395	chr1:193627531-193627532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4657758	chr1:193627537-193627538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563606769	chr1:193627558-193627559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1410397	chr1:193627682-193627683	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75975133	chr1:193627721-193627722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572652526	chr1:193627790-193627791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538443288	chr1:193627800-193627801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193622000-193627400	Weak transcription	Fetal Brain Male	brain
2	chr1:193624000-193627400	Weak transcription	Fetal Heart	heart
3	chr1:193624400-193627200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:193624400-193628600	Weak transcription	Left Ventricle	heart
5	chr1:193624400-193629000	Weak transcription	Aorta	Aorta
6	chr1:193624600-193627400	Weak transcription	Small Intestine	intestine
7	chr1:193624800-193629000	Weak transcription	HSMMtube	muscle
8	chr1:193625800-193626800	Enhancers	Fetal Intestine Large	intestine
9	chr1:193626000-193627200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:193626000-193635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:193626200-193626400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:193626400-193627400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:193626600-193627000	Enhancers	Fetal Intestine Small	intestine
14	chr1:193627200-193628000	Enhancers	Colon Smooth Muscle	Colon
15	chr1:193627400-193627600	Enhancers	Small Intestine	intestine
16	chr1:193627400-193627800	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:193627400-193628000	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:193627400-193628400	Enhancers	Fetal Brain Male	brain
19	chr1:193627400-193628800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:193627400-193631000	Enhancers	Fetal Heart	heart
21	chr1:193627600-193628200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:193627600-193628200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:193627600-193628200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:193628000-193629000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:193628000-193630600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:193628600-193630200	Enhancers	Left Ventricle	heart
27	chr1:193629000-193629200	Enhancers	Aorta	Aorta
28	chr1:193629000-193629200	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:193629000-193629200	Enhancers	HSMMtube	muscle
30	chr1:193629200-193629600	Weak transcription	Aorta	Aorta
31	chr1:193629600-193631000	Enhancers	Aorta	Aorta
32	chr1:193630200-193630600	Weak transcription	Left Ventricle	heart
33	chr1:193630600-193630800	Enhancers	Colon Smooth Muscle	Colon
34	chr1:193630600-193631000	Enhancers	Left Ventricle	heart

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