Variant report

Variant	esv9860
Chromosome Location	chr7:14837460-14841270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556301057	chr7:14840027-14840028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10234529	chr7:14840046-14840047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567112127	chr7:14840062-14840063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117413098	chr7:14840115-14840116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546787126	chr7:14840148-14840149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566402934	chr7:14840193-14840194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6978460	chr7:14840223-14840224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558263440	chr7:14840232-14840233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575351080	chr7:14840239-14840240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147211174	chr7:14840240-14840241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557714216	chr7:14840269-14840270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368573580	chr7:14840273-14840274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542820334	chr7:14840287-14840288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559906488	chr7:14840292-14840293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138957303	chr7:14840300-14840301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532736247	chr7:14840338-14840339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545532405	chr7:14840345-14840346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73070729	chr7:14840356-14840357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530849471	chr7:14840381-14840382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550441996	chr7:14840388-14840389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56141933	chr7:14840404-14840405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529944449	chr7:14840412-14840413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546428352	chr7:14840437-14840438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78281829	chr7:14840439-14840440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532097287	chr7:14840464-14840465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369919310	chr7:14840487-14840488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116227145	chr7:14840492-14840493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555169272	chr7:14840519-14840520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568847802	chr7:14840523-14840524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556257464	chr7:14840557-14840558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537813510	chr7:14840603-14840604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554620636	chr7:14840609-14840610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76262435	chr7:14840612-14840613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536956368	chr7:14840613-14840614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28802611	chr7:14840626-14840627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73070732	chr7:14840634-14840635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6944904	chr7:14840654-14840655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558657309	chr7:14840655-14840656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112136506	chr7:14840656-14840657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575346730	chr7:14840723-14840724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544156382	chr7:14840768-14840769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113432269	chr7:14840866-14840867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560947719	chr7:14840891-14840892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148532554	chr7:14840895-14840896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142844349	chr7:14840916-14840917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560073217	chr7:14840941-14840942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188467539	chr7:14840949-14840950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545855086	chr7:14840966-14840967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562371205	chr7:14840967-14840968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531192192	chr7:14840992-14840993	Enhancers	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
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	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	chr7:14840000-14840600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:14840400-14841000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr7:14840600-14841200	Enhancers	Skeletal Muscle Male	skeletal muscle

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