Variant report

Variant	esv3523850
Chromosome Location	chr7:14250853-14252055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565501466	chr7:14250868-14250869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531208051	chr7:14250891-14250892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138449859	chr7:14250909-14250910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34395141	chr7:14250911-14250912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201129715	chr7:14250912-14250913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201921013	chr7:14250921-14250922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35146073	chr7:14250931-14250932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs66468165	chr7:14250943-14250944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189532001	chr7:14250949-14250950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35838095	chr7:14250953-14250954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530087791	chr7:14250964-14250965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66922848	chr7:14250965-14250966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143799830	chr7:14250974-14250975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200335858	chr7:14250977-14250978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35349267	chr7:14250986-14250987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62445569	chr7:14250996-14250997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181834305	chr7:14250998-14250999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566812736	chr7:14251007-14251008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66493675	chr7:14251008-14251009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35109465	chr7:14251013-14251014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187088458	chr7:14251017-14251018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539139117	chr7:14251020-14251021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67507473	chr7:14251029-14251030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35832991	chr7:14251039-14251040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555453412	chr7:14251047-14251048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56375145	chr7:14251052-14251053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5024497	chr7:14251060-14251061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372941029	chr7:14251072-14251073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568743243	chr7:14251093-14251094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66900460	chr7:14251094-14251095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs5024496	chr7:14251103-14251104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369063457	chr7:14251115-14251116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549683422	chr7:14251120-14251121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373528322	chr7:14251136-14251137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372518761	chr7:14251137-14251138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76038078	chr7:14251146-14251147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369884916	chr7:14251157-14251158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67659095	chr7:14251158-14251159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537735036	chr7:14251170-14251171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200985069	chr7:14251179-14251180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554486336	chr7:14251192-14251193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200398310	chr7:14251201-14251202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34252171	chr7:14251211-14251212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551573886	chr7:14251222-14251223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67922808	chr7:14251223-14251224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376789407	chr7:14251244-14251245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34782516	chr7:14251265-14251266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35407913	chr7:14251287-14251288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372803744	chr7:14251297-14251298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573934459	chr7:14251308-14251309	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14250000-14273400	Weak transcription	Left Ventricle	heart
2	chr7:14250800-14254600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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