Variant report

Variant	esv3342141
Chromosome Location	chr7:14250277-14253050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 223 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569723588	chr7:14250277-14250278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553110277	chr7:14250286-14250287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192986681	chr7:14250298-14250299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545280747	chr7:14250325-14250326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542151968	chr7:14250330-14250331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140606836	chr7:14250386-14250387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77394573	chr7:14250396-14250397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74949554	chr7:14250412-14250413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560569909	chr7:14250417-14250418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144544388	chr7:14250430-14250431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546407784	chr7:14250440-14250441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559883726	chr7:14250447-14250448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528724955	chr7:14250483-14250484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151243932	chr7:14250523-14250524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140426617	chr7:14250524-14250525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531243376	chr7:14250527-14250528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184728579	chr7:14250553-14250554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189650554	chr7:14250557-14250558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149988408	chr7:14250564-14250565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145221860	chr7:14250570-14250571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533809839	chr7:14250583-14250584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180899745	chr7:14250588-14250589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141302283	chr7:14250592-14250593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538409542	chr7:14250644-14250645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10266478	chr7:14250652-14250653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183644651	chr7:14250708-14250709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7777813	chr7:14250716-14250717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73679687	chr7:14250721-14250722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145108693	chr7:14250732-14250733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114332333	chr7:14250740-14250741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375940868	chr7:14250751-14250752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35945041	chr7:14250784-14250785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559943869	chr7:14250811-14250812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532241519	chr7:14250819-14250820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371925826	chr7:14250839-14250840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199583541	chr7:14250851-14250852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565501466	chr7:14250868-14250869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531208051	chr7:14250891-14250892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138449859	chr7:14250909-14250910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34395141	chr7:14250911-14250912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201129715	chr7:14250912-14250913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201921013	chr7:14250921-14250922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35146073	chr7:14250931-14250932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs66468165	chr7:14250943-14250944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189532001	chr7:14250949-14250950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35838095	chr7:14250953-14250954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530087791	chr7:14250964-14250965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66922848	chr7:14250965-14250966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143799830	chr7:14250974-14250975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200335858	chr7:14250977-14250978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14249000-14250600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:14249000-14250800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:14249400-14250600	Enhancers	Brain Germinal Matrix	brain
4	chr7:14250000-14273400	Weak transcription	Left Ventricle	heart
5	chr7:14250200-14250600	Enhancers	Fetal Heart	heart
6	chr7:14250800-14254600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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