Variant report

Variant	nsv464390
Chromosome Location	chr7:15059272-15087599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:15058053..15060763-chr7:15070842..15072885,2	K562	blood:
2	chr7:15058053..15060763-chr7:15070842..15072885,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-9	chr7:15074455-15074801	NONHSAT119273
2	lnc-AC006035.2-9	chr7:15072357-15072662	NONHSAT119273

Extended variants
information (count: 1158 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1158 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11514706	chr7:15059272-15059273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542572848	chr7:15059308-15059309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12540947	chr7:15059326-15059327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371489852	chr7:15059355-15059356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547959188	chr7:15059471-15059472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374391906	chr7:15059511-15059512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184711892	chr7:15059529-15059530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549780411	chr7:15059550-15059551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569752655	chr7:15059552-15059553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189577549	chr7:15059573-15059574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115916600	chr7:15059579-15059580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148586465	chr7:15059618-15059619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534527626	chr7:15059680-15059681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143122732	chr7:15059687-15059688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539362972	chr7:15059689-15059690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181703973	chr7:15059700-15059701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558633697	chr7:15059704-15059705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184398427	chr7:15059709-15059710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557077230	chr7:15059712-15059713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6461153	chr7:15059796-15059797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7801786	chr7:15059833-15059834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377588280	chr7:15059868-15059869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146670457	chr7:15059891-15059892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4721400	chr7:15059906-15059907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs139170719	chr7:15059918-15059919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189083205	chr7:15059953-15059954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533337207	chr7:15059986-15059987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181821889	chr7:15060027-15060028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144059429	chr7:15060047-15060048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371896304	chr7:15060077-15060078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150980332	chr7:15060126-15060127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549319442	chr7:15060145-15060146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7783429	chr7:15060161-15060162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528359454	chr7:15060196-15060197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551300681	chr7:15060198-15060199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140852644	chr7:15060228-15060229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542397767	chr7:15060235-15060236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150166967	chr7:15060236-15060237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145594578	chr7:15060266-15060267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567357141	chr7:15060269-15060270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141452060	chr7:15060275-15060276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147028203	chr7:15060287-15060288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572667992	chr7:15060313-15060314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138320298	chr7:15060319-15060320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558148924	chr7:15060326-15060327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564740419	chr7:15060336-15060337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577866687	chr7:15060345-15060346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58583972	chr7:15060351-15060352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543601639	chr7:15060357-15060358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143904764	chr7:15060390-15060391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15058000-15064200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15063000-15063800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:15064200-15064400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:15064400-15072400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:15068000-15068600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr7:15070800-15071400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:15072400-15072600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:15072600-15075000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:15073600-15074600	Enhancers	HUVEC	blood vessel
10	chr7:15075000-15075200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:15075200-15075800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:15075800-15076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:15076400-15076800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:15080400-15080600	Enhancers	Colon Smooth Muscle	Colon
15	chr7:15080400-15081800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:15080400-15082800	Enhancers	HUVEC	blood vessel
17	chr7:15080600-15082800	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:15081000-15081400	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:15081400-15081800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:15081600-15082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:15081800-15082000	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:15081800-15082400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:15081800-15083200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:15082000-15083000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:15082800-15084600	Enhancers	Colon Smooth Muscle	Colon
26	chr7:15083000-15084600	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:15083200-15083800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:15083600-15084000	Enhancers	Fetal Stomach	stomach
29	chr7:15083600-15084000	Enhancers	Left Ventricle	heart
30	chr7:15084600-15093600	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:15086400-15087000	Enhancers	Fetal Intestine Small	intestine
32	chr7:15086600-15087000	Enhancers	Liver	Liver

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