Variant report

Variant	nsv515497
Chromosome Location	chr7:12003416-12009954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10277752	chr7:12003416-12003417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541871377	chr7:12003443-12003444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184318652	chr7:12003468-12003469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543095794	chr7:12003495-12003496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190146171	chr7:12003498-12003499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200324143	chr7:12003500-12003501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573255096	chr7:12003506-12003507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545456120	chr7:12003508-12003509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182003833	chr7:12003526-12003527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533289365	chr7:12003539-12003540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2908746	chr7:12003602-12003603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563508446	chr7:12003631-12003632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529117121	chr7:12003659-12003660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549059886	chr7:12003701-12003702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10262661	chr7:12003733-12003734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528043703	chr7:12003876-12003877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550982371	chr7:12003881-12003882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186156620	chr7:12003918-12003919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191498884	chr7:12003945-12003946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116937638	chr7:12003946-12003947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138304465	chr7:12003955-12003956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149202104	chr7:12003971-12003972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567842465	chr7:12003978-12003979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540692533	chr7:12003982-12003983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563948781	chr7:12003996-12003997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180712422	chr7:12004026-12004027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57820973	chr7:12004027-12004028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73287290	chr7:12004074-12004075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558996521	chr7:12004077-12004078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367823293	chr7:12004114-12004115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577821370	chr7:12004120-12004121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75507985	chr7:12004140-12004141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73287292	chr7:12004187-12004188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529068110	chr7:12004220-12004221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542472446	chr7:12004235-12004236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2908745	chr7:12004270-12004271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528175055	chr7:12004284-12004285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76876796	chr7:12004292-12004293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559260461	chr7:12004294-12004295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371947960	chr7:12004415-12004416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114728439	chr7:12004425-12004426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56137541	chr7:12004426-12004427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190955070	chr7:12004442-12004443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73287297	chr7:12004506-12004507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566926030	chr7:12004510-12004511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183568812	chr7:12004523-12004524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188629265	chr7:12004538-12004539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575591485	chr7:12004602-12004603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537881549	chr7:12004732-12004733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549335559	chr7:12004737-12004738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11997400-12009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12008600-12009800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:12009000-12009800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:12009200-12010000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:12009200-12010200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:12009400-12009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:12009400-12010200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:12009600-12010400	Enhancers	Rectal Mucosa Donor 31	rectum

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