Variant report

Variant	esv3499595
Chromosome Location	chr7:15290761-15329547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1131 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144414501	chr7:15290774-15290775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184373755	chr7:15290833-15290834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143818820	chr7:15290842-15290843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553897076	chr7:15290869-15290870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113459766	chr7:15290874-15290875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539817413	chr7:15290876-15290877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556323460	chr7:15290889-15290890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189130616	chr7:15290893-15290894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192421062	chr7:15290909-15290910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76527197	chr7:15290923-15290924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561558226	chr7:15290942-15290943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112768308	chr7:15290956-15290957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113975968	chr7:15290960-15290961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74364339	chr7:15290997-15290998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532427442	chr7:15290999-15291000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552555681	chr7:15291001-15291002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569128029	chr7:15291018-15291019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543727739	chr7:15291019-15291020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554313021	chr7:15291052-15291053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538167598	chr7:15291067-15291068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574309808	chr7:15291079-15291080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75491681	chr7:15291094-15291095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370400129	chr7:15291147-15291148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141240677	chr7:15291174-15291175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533975642	chr7:15291181-15291182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184812141	chr7:15291183-15291184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371167201	chr7:15291187-15291188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73279645	chr7:15291226-15291227	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114578813	chr7:15291253-15291254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554953944	chr7:15291267-15291268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75506188	chr7:15291276-15291277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577114098	chr7:15291277-15291278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564861166	chr7:15291302-15291303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373616302	chr7:15291304-15291305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368883438	chr7:15291322-15291323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62450273	chr7:15291324-15291325	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561415525	chr7:15291361-15291362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370584618	chr7:15291364-15291365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574743816	chr7:15291378-15291379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540435425	chr7:15291398-15291399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560279034	chr7:15291441-15291442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533010679	chr7:15291472-15291473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75209101	chr7:15291507-15291508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552367215	chr7:15291514-15291515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562932374	chr7:15291515-15291516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73060415	chr7:15291533-15291534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144953738	chr7:15291541-15291542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138872624	chr7:15291586-15291587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375187367	chr7:15291649-15291650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534042015	chr7:15291686-15291687	Weak transcription	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15284400-15298000	Weak transcription	Liver	Liver
2	chr7:15291200-15291600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:15292000-15292200	Enhancers	Aorta	Aorta
4	chr7:15292200-15292400	Weak transcription	Aorta	Aorta
5	chr7:15306000-15306800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:15306000-15306800	Enhancers	HUVEC	blood vessel
7	chr7:15316200-15317600	Weak transcription	Liver	Liver
8	chr7:15317000-15331600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:15317600-15318600	Strong transcription	Liver	Liver
10	chr7:15318000-15318600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr7:15318000-15320400	Enhancers	Fetal Muscle Leg	muscle
12	chr7:15318600-15320400	Weak transcription	Liver	Liver
13	chr7:15318600-15320800	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:15318800-15320400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:15319000-15319400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:15319200-15319600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:15319400-15320200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:15319400-15320200	Enhancers	Ovary	ovary
19	chr7:15319400-15320400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:15319600-15320000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:15320400-15321200	Strong transcription	Liver	Liver
22	chr7:15321200-15322800	Weak transcription	Liver	Liver
23	chr7:15322800-15323000	ZNF genes & repeats	Liver	Liver
24	chr7:15323200-15323800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:15323200-15324600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:15323800-15324000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:15324000-15324200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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