Variant report

Variant	nsv981799
Chromosome Location	chr7:11514828-11520367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 271 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:271 , 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	rs545028265	chr7:11514829-11514830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150040176	chr7:11514856-11514857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550266890	chr7:11514858-11514859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17164640	chr7:11514865-11514866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146598945	chr7:11514882-11514883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184573312	chr7:11514934-11514935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200533141	chr7:11514937-11514938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529119491	chr7:11514944-11514945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549286911	chr7:11514952-11514953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566010002	chr7:11514953-11514954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534595340	chr7:11514956-11514957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536052224	chr7:11514975-11514976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140119704	chr7:11514997-11514998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78141512	chr7:11515017-11515018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190252569	chr7:11515018-11515019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574118005	chr7:11515041-11515042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62438196	chr7:11515145-11515146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553229290	chr7:11515148-11515149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17555821	chr7:11515176-11515177	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535032182	chr7:11515181-11515182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201519999	chr7:11515210-11515211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558007566	chr7:11515211-11515212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72236315	chr7:11515225-11515226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564495983	chr7:11515227-11515228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61076481	chr7:11515230-11515231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560180633	chr7:11515244-11515245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539579249	chr7:11515246-11515247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532024740	chr7:11515265-11515266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558631978	chr7:11515285-11515286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375142800	chr7:11515308-11515309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544346954	chr7:11515339-11515340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553141794	chr7:11515362-11515363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529079213	chr7:11515365-11515366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28707280	chr7:11515390-11515391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369675009	chr7:11515458-11515459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528352200	chr7:11515470-11515471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551654364	chr7:11515480-11515481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79624941	chr7:11515484-11515485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530542827	chr7:11515498-11515499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539028968	chr7:11515515-11515516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550388029	chr7:11515525-11515526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567049483	chr7:11515535-11515536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553018024	chr7:11515563-11515564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2214445	chr7:11515588-11515589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201341752	chr7:11515598-11515599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3919471	chr7:11515605-11515606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6967452	chr7:11515614-11515615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553111097	chr7:11515619-11515620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6967171	chr7:11515633-11515634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17555842	chr7:11515641-11515642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11480400-11523200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:11490800-11515800	Weak transcription	Fetal Stomach	stomach
3	chr7:11498600-11519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:11511400-11515000	Enhancers	Liver	Liver
5	chr7:11513800-11519000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:11514000-11515000	Enhancers	Stomach Mucosa	stomach
7	chr7:11514000-11515200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:11514000-11515200	Enhancers	Gastric	stomach
9	chr7:11514000-11520600	Weak transcription	Fetal Kidney	kidney
10	chr7:11514200-11522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:11514200-11531600	Weak transcription	Fetal Lung	lung
12	chr7:11514600-11515200	Enhancers	Pancreas	Pancrea
13	chr7:11514800-11515000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:11514800-11523000	Weak transcription	Placenta	Placenta
15	chr7:11515200-11521400	Weak transcription	Pancreas	Pancrea
16	chr7:11518000-11518800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:11518000-11519000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:11518800-11519800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:11519000-11520400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:11519800-11520200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:11519800-11520200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:11519800-11520200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:11520200-11523600	Weak transcription	Primary monocytes fromperipheralblood	blood

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