Variant report

Variant	esv3332876
Chromosome Location	chr7:19363277-19365325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62447425	chr7:19363299-19363300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540857319	chr7:19363356-19363357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183414802	chr7:19363361-19363362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572960698	chr7:19363376-19363377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62447426	chr7:19363385-19363386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559439275	chr7:19363436-19363437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187345315	chr7:19363441-19363442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377473535	chr7:19363454-19363455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192999424	chr7:19363506-19363507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201188774	chr7:19363591-19363592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144330679	chr7:19363600-19363601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386710939	chr7:19363602-19363603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563368825	chr7:19363619-19363620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530928678	chr7:19363623-19363624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76913656	chr7:19363627-19363628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565552266	chr7:19363632-19363633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373867515	chr7:19363633-19363634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377176151	chr7:19363635-19363636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369929481	chr7:19363636-19363637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547181351	chr7:19363685-19363686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542333338	chr7:19363692-19363693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183080822	chr7:19363717-19363718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545939682	chr7:19363725-19363726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568656830	chr7:19363735-19363736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188023462	chr7:19363775-19363776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550695274	chr7:19363777-19363778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568914095	chr7:19363843-19363844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1465297	chr7:19363844-19363845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192593430	chr7:19363872-19363873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145186516	chr7:19363927-19363928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116626648	chr7:19364028-19364029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555177699	chr7:19364041-19364042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368108491	chr7:19364057-19364058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147620587	chr7:19364101-19364102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140779215	chr7:19364133-19364134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563432435	chr7:19364181-19364182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183876113	chr7:19364199-19364200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546152940	chr7:19364204-19364205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370061944	chr7:19364225-19364226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77537865	chr7:19364240-19364241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3028338	chr7:19364241-19364242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75326756	chr7:19364242-19364243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375399885	chr7:19364243-19364244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76173270	chr7:19364244-19364245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5882701	chr7:19364246-19364247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9918502	chr7:19364248-19364249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560695834	chr7:19364250-19364251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71017036	chr7:19364266-19364267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376150737	chr7:19364275-19364276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185070913	chr7:19364289-19364290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19357600-19366600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:19362000-19365800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:19362200-19366800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links