Variant report

Variant	esv3354268
Chromosome Location	chr7:109989716-109994114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 255 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561748865	chr7:109989732-109989733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530407034	chr7:109989766-109989767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200501997	chr7:109989787-109989788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371518661	chr7:109989857-109989858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376612928	chr7:109989874-109989875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550686180	chr7:109989885-109989886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564162098	chr7:109989886-109989887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532802795	chr7:109989887-109989888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570453535	chr7:109989896-109989897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183464125	chr7:109989901-109989902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78971860	chr7:109989952-109989953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186701831	chr7:109989964-109989965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77026234	chr7:109989980-109989981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568466247	chr7:109990015-109990016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537031897	chr7:109990017-109990018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191553210	chr7:109990036-109990037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576920971	chr7:109990097-109990098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539509544	chr7:109990182-109990183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552766922	chr7:109990194-109990195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572927795	chr7:109990198-109990199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542137802	chr7:109990218-109990219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561819892	chr7:109990223-109990224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575236583	chr7:109990242-109990243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543861986	chr7:109990261-109990262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149397866	chr7:109990274-109990275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540295101	chr7:109990275-109990276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376844378	chr7:109990305-109990306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528655628	chr7:109990321-109990322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548895619	chr7:109990345-109990346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200336948	chr7:109990355-109990356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530979339	chr7:109990356-109990357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550562989	chr7:109990361-109990362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369566205	chr7:109990375-109990376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570480316	chr7:109990377-109990378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539569392	chr7:109990390-109990391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553031023	chr7:109990395-109990396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184134422	chr7:109990427-109990428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535283102	chr7:109990434-109990435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201272366	chr7:109990439-109990440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190020419	chr7:109990450-109990451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544479161	chr7:109990516-109990517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557801909	chr7:109990523-109990524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577683127	chr7:109990614-109990615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540357470	chr7:109990629-109990630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559974454	chr7:109990675-109990676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528721976	chr7:109990702-109990703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373656749	chr7:109990703-109990704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376345922	chr7:109990707-109990708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542052845	chr7:109990720-109990721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192706858	chr7:109990747-109990748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109981400-110006200	Weak transcription	Dnd41	blood

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