Variant report

Variant	nsv8056
Chromosome Location	chr7:15068274-15072384
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:

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

Extended variants
information (count: 201 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556196242	chr7:15068274-15068275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73064853	chr7:15068332-15068333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540987914	chr7:15068340-15068341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554510235	chr7:15068350-15068351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577587100	chr7:15068380-15068381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548374933	chr7:15068431-15068432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546099420	chr7:15068445-15068446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs67306396	chr7:15068464-15068465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531787509	chr7:15068481-15068482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187645955	chr7:15068521-15068522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561835692	chr7:15068551-15068552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547365768	chr7:15068561-15068562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570771191	chr7:15068586-15068587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189565902	chr7:15068592-15068593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547340023	chr7:15068649-15068650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539040961	chr7:15068686-15068687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17377598	chr7:15068703-15068704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533220185	chr7:15068717-15068718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569384935	chr7:15068760-15068761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535180108	chr7:15068762-15068763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549791012	chr7:15068778-15068779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137976653	chr7:15068802-15068803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555500079	chr7:15068815-15068816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543778037	chr7:15068867-15068868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77369708	chr7:15068880-15068881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116080411	chr7:15068883-15068884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565735233	chr7:15068933-15068934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534625154	chr7:15068941-15068942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368817280	chr7:15068948-15068949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557755014	chr7:15068962-15068963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116258928	chr7:15068983-15068984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17168605	chr7:15069018-15069019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541660475	chr7:15069067-15069068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182220810	chr7:15069098-15069099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373237008	chr7:15069103-15069104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76348917	chr7:15069114-15069115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576615127	chr7:15069116-15069117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186910151	chr7:15069127-15069128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190171585	chr7:15069150-15069151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16878372	chr7:15069182-15069183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4376412	chr7:15069205-15069206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183374832	chr7:15069211-15069212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1318428	chr7:15069227-15069228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550089103	chr7:15069239-15069240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143547649	chr7:15069272-15069273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529089098	chr7:15069278-15069279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111742455	chr7:15069311-15069312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370882054	chr7:15069319-15069320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549172855	chr7:15069320-15069321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188356807	chr7:15069366-15069367	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15064400-15072400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15068000-15068600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:15070800-15071400	Active TSS	Pancreatic Islets	Pancreatic Islet

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