Variant report

Variant	esv3347782
Chromosome Location	chr1:190415629-190417827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540378277	chr1:190415645-190415646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116140362	chr1:190415660-190415661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6664710	chr1:190415681-190415682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559441555	chr1:190415685-190415686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546212456	chr1:190415687-190415688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180931654	chr1:190415691-190415692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531703435	chr1:190415709-190415710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185954977	chr1:190415710-190415711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142924880	chr1:190415725-190415726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373712619	chr1:190415748-190415749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151081992	chr1:190415766-190415767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549338127	chr1:190415767-190415768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189614292	chr1:190415778-190415779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532089759	chr1:190415793-190415794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552223430	chr1:190415794-190415795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568777852	chr1:190415826-190415827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181104651	chr1:190415841-190415842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115140985	chr1:190415876-190415877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186337407	chr1:190415908-190415909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549984115	chr1:190415982-190415983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553929589	chr1:190415998-190415999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16832338	chr1:190416057-190416058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190772575	chr1:190416104-190416105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556586713	chr1:190416143-190416144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527472931	chr1:190416165-190416166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559893382	chr1:190416174-190416175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576362561	chr1:190416248-190416249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542205043	chr1:190416263-190416264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561207978	chr1:190416287-190416288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12087474	chr1:190416298-190416299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568536402	chr1:190416316-190416317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540462369	chr1:190416330-190416331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182955127	chr1:190416334-190416335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546084037	chr1:190416379-190416380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146900182	chr1:190416381-190416382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5779531	chr1:190416430-190416431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570634146	chr1:190416431-190416432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71718661	chr1:190416441-190416442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76238798	chr1:190416457-190416458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369808910	chr1:190416479-190416480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199554405	chr1:190416480-190416481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538171900	chr1:190416485-190416486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186503079	chr1:190416575-190416576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562553802	chr1:190416671-190416672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13375669	chr1:190416675-190416676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547772370	chr1:190416693-190416694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377608154	chr1:190416734-190416735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568446796	chr1:190416746-190416747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200315088	chr1:190416748-190416749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12049541	chr1:190416750-190416751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190379400-190420000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:190411000-190425600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:190414000-190419200	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links