Variant report

Variant	esv3400375
Chromosome Location	chr7:14249127-14253425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 288 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:288 , 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	rs112017928	chr7:14249128-14249129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529140669	chr7:14249129-14249130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542939479	chr7:14249142-14249143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114178466	chr7:14249223-14249224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188026151	chr7:14249226-14249227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530210179	chr7:14249248-14249249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551319528	chr7:14249275-14249276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529601122	chr7:14249308-14249309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571174842	chr7:14249348-14249349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530499056	chr7:14249387-14249388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377312250	chr7:14249437-14249438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12537252	chr7:14249508-14249509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189696755	chr7:14249510-14249511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569908056	chr7:14249521-14249522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35178096	chr7:14249522-14249523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78405845	chr7:14249531-14249532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398003731	chr7:14249532-14249533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182047583	chr7:14249533-14249534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549317011	chr7:14249540-14249541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187785663	chr7:14249566-14249567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16878103	chr7:14249579-14249580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148430257	chr7:14249653-14249654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558106284	chr7:14249665-14249666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578092379	chr7:14249670-14249671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537532070	chr7:14249680-14249681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145194244	chr7:14249702-14249703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117439919	chr7:14249720-14249721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542764486	chr7:14249747-14249748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115208936	chr7:14249755-14249756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17167977	chr7:14249811-14249812	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545001567	chr7:14249847-14249848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564522382	chr7:14249857-14249858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530465446	chr7:14249894-14249895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550259869	chr7:14249913-14249914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192352274	chr7:14249915-14249916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184404029	chr7:14250003-14250004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116537955	chr7:14250062-14250063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566166125	chr7:14250064-14250065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535306376	chr7:14250197-14250198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147202881	chr7:14250206-14250207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539011189	chr7:14250222-14250223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188279538	chr7:14250224-14250225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537393704	chr7:14250263-14250264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17167979	chr7:14250269-14250270	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115434281	chr7:14250270-14250271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549932475	chr7:14250274-14250275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536369319	chr7:14250275-14250276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569723588	chr7:14250277-14250278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553110277	chr7:14250286-14250287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192986681	chr7:14250298-14250299	Enhancers 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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14247200-14249600	Weak transcription	Left Ventricle	heart
2	chr7:14247200-14249800	Weak transcription	Esophagus	oesophagus
3	chr7:14247400-14250200	Weak transcription	Fetal Heart	heart
4	chr7:14249000-14250600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:14249000-14250800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:14249400-14250600	Enhancers	Brain Germinal Matrix	brain
7	chr7:14249600-14250000	Enhancers	Left Ventricle	heart
8	chr7:14249800-14250000	Enhancers	Esophagus	oesophagus
9	chr7:14249800-14250200	Enhancers	Brain Anterior Caudate	brain
10	chr7:14250000-14273400	Weak transcription	Left Ventricle	heart
11	chr7:14250200-14250600	Enhancers	Fetal Heart	heart
12	chr7:14250800-14254600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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