Variant report

Variant	nsv1015384
Chromosome Location	chr7:15144078-15163010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:10529800..10530510-chr7:15146578..15147089,2	MCF-7	breast:
2	chr7:15148394..15150106-chr7:15160727..15163235,2	K562	blood:
3	chr7:15148394..15150106-chr7:15160727..15163235,2	K562	blood:

Variant related genes	Relation type
ENSG00000111846	chromatin interactions

Extended variants
information (count: 285 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:285 , 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	rs539065957	chr7:15144100-15144101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74605809	chr7:15144112-15144113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148836578	chr7:15144128-15144129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535162527	chr7:15144152-15144153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538147478	chr7:15144165-15144166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183929060	chr7:15144178-15144179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369590511	chr7:15144182-15144183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374874742	chr7:15144212-15144213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568472640	chr7:15144216-15144217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188872818	chr7:15144221-15144222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553450718	chr7:15144224-15144225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537025656	chr7:15144245-15144246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545464784	chr7:15144252-15144253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193283340	chr7:15144270-15144271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79012647	chr7:15144296-15144297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141858788	chr7:15144313-15144314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544889075	chr7:15144466-15144467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561417982	chr7:15144514-15144515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530355850	chr7:15144591-15144592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150187649	chr7:15144596-15144597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370364286	chr7:15144599-15144600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76658158	chr7:15144606-15144607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376120153	chr7:15144609-15144610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532672409	chr7:15144641-15144642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17327498	chr7:15144710-15144711	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73063268	chr7:15144757-15144758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138827499	chr7:15144771-15144772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374571851	chr7:15144781-15144782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188447394	chr7:15144842-15144843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568250638	chr7:15144909-15144910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368690075	chr7:15144924-15144925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553705621	chr7:15144967-15144968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570277958	chr7:15144989-15144990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371830797	chr7:15144991-15144992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191775684	chr7:15144994-15144995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112554776	chr7:15145021-15145022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73063269	chr7:15145022-15145023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568816777	chr7:15145026-15145027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184189855	chr7:15145032-15145033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188911723	chr7:15145046-15145047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540888476	chr7:15145051-15145052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114095437	chr7:15145094-15145095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532706699	chr7:15145120-15145121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546366327	chr7:15145121-15145122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562961754	chr7:15145128-15145129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147513453	chr7:15145132-15145133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548266498	chr7:15145141-15145142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568412919	chr7:15145157-15145158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541154196	chr7:15145167-15145168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527606397	chr7:15145204-15145205	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15137000-15144800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:15143800-15144200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:15143800-15146400	Enhancers	Fetal Lung	lung
4	chr7:15144000-15144800	Enhancers	Colon Smooth Muscle	Colon
5	chr7:15144400-15144800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:15144800-15145400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:15159200-15160000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:15160000-15164000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:15162400-15163800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:15162800-15163800	Enhancers	HUVEC	blood vessel
11	chr7:15163000-15163400	Enhancers	Fetal Heart	heart

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