Variant report

Variant	esv3427511
Chromosome Location	chr7:15361177-15363650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537802281	chr7:15361189-15361190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34222926	chr7:15361191-15361192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182595039	chr7:15361195-15361196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7783418	chr7:15361199-15361200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146559826	chr7:15361204-15361205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185834386	chr7:15361221-15361222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374924478	chr7:15361224-15361225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541828234	chr7:15361238-15361239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572535888	chr7:15361288-15361289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550842888	chr7:15361290-15361291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543498482	chr7:15363006-15363007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74672764	chr7:15363007-15363008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563755124	chr7:15363048-15363049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543238391	chr7:15363084-15363085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114581241	chr7:15363122-15363123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551607192	chr7:15363193-15363194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541005297	chr7:15363195-15363196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182205011	chr7:15363197-15363198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187581955	chr7:15363243-15363244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548685235	chr7:15363281-15363282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62450328	chr7:15363284-15363285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531097815	chr7:15363289-15363290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10279898	chr7:15363293-15363294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570998897	chr7:15363297-15363298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535324859	chr7:15363334-15363335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571674341	chr7:15363354-15363355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561883917	chr7:15363366-15363367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527508030	chr7:15363368-15363369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370044370	chr7:15363384-15363385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565656610	chr7:15363390-15363391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535861807	chr7:15363401-15363402	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554218762	chr7:15363407-15363408	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs116285579	chr7:15363413-15363414	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115418479	chr7:15363451-15363452	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188222139	chr7:15363478-15363479	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181029304	chr7:15363492-15363493	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577009732	chr7:15363519-15363520	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547695562	chr7:15363529-15363530	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534253149	chr7:15363549-15363550	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs142664166	chr7:15363573-15363574	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs367906701	chr7:15363585-15363586	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371443562	chr7:15363621-15363622	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559421281	chr7:15363627-15363628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185691376	chr7:15363649-15363650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15360600-15361400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15361000-15361400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:15363000-15363600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:15363200-15363800	Enhancers	Osteobl	bone
5	chr7:15363400-15363600	Active TSS	Fetal Lung	lung
6	chr7:15363400-15363800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:15363400-15363800	Enhancers	NHDF-Ad	bronchial
8	chr7:15363400-15364000	Enhancers	Liver	Liver
9	chr7:15363400-15364000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr7:15363400-15364000	Enhancers	Brain Substantia Nigra	brain
11	chr7:15363600-15363800	Flanking Active TSS	Fetal Lung	lung

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