Variant report

Variant	esv3371618
Chromosome Location	chr7:15445102-15447975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577543390	chr7:15445126-15445127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78243121	chr7:15445129-15445130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141073773	chr7:15445138-15445139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574370843	chr7:15445159-15445160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542367357	chr7:15445187-15445188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180999481	chr7:15445193-15445194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115311718	chr7:15445221-15445222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35755377	chr7:15445236-15445237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146959062	chr7:15445249-15445250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543381660	chr7:15445325-15445326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62439269	chr7:15445335-15445336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547856127	chr7:15445348-15445349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111616756	chr7:15445367-15445368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116264759	chr7:15445382-15445383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148017836	chr7:15445384-15445385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548763864	chr7:15445463-15445464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142900964	chr7:15445486-15445487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11971919	chr7:15445505-15445506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185402301	chr7:15445528-15445529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559186909	chr7:15445557-15445558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572792307	chr7:15445569-15445570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150569939	chr7:15445629-15445630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538244877	chr7:15445632-15445633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553356171	chr7:15445646-15445647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541761281	chr7:15445655-15445656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58852304	chr7:15445711-15445712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532933228	chr7:15445742-15445743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12531472	chr7:15445800-15445801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560893136	chr7:15445801-15445802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12531507	chr7:15445806-15445807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113472032	chr7:15445842-15445843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374524570	chr7:15445853-15445854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71549941	chr7:15445854-15445855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550385743	chr7:15445855-15445856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142214530	chr7:15445865-15445866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543193669	chr7:15445877-15445878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6953712	chr7:15445896-15445897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs202069930	chr7:15445909-15445910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189999606	chr7:15445910-15445911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199888237	chr7:15445915-15445916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565179659	chr7:15445921-15445922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532448558	chr7:15445923-15445924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371753838	chr7:15445925-15445926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149327899	chr7:15445933-15445934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4719445	chr7:15445940-15445941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553656155	chr7:15445945-15445946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530187671	chr7:15445952-15445953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548639916	chr7:15445965-15445966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369221503	chr7:15445974-15445975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57793647	chr7:15445984-15445985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15440600-15454000	Weak transcription	Liver	Liver
2	chr7:15443800-15447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:15444200-15447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:15447000-15448400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:15447000-15448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:15447200-15448600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:15447400-15447800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:15447400-15448400	Enhancers	HUVEC	blood vessel

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