Variant report

Variant	nsv523264
Chromosome Location	chr7:11521542-11522525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3735502	chr7:11521542-11521543	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372193367	chr7:11521554-11521555	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376575617	chr7:11521583-11521584	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369464375	chr7:11521606-11521607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534045935	chr7:11521649-11521650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553087795	chr7:11521660-11521661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572976908	chr7:11521697-11521698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545254516	chr7:11521707-11521708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558613516	chr7:11521729-11521730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574872359	chr7:11521730-11521731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189626329	chr7:11521766-11521767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560559843	chr7:11521769-11521770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199803587	chr7:11521812-11521813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529693733	chr7:11521822-11521823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545086819	chr7:11521853-11521854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560127444	chr7:11521858-11521859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532628898	chr7:11521875-11521876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552810683	chr7:11521891-11521892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569614314	chr7:11521904-11521905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2214446	chr7:11521941-11521942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563717342	chr7:11521951-11521952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568470524	chr7:11521953-11521954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531109566	chr7:11521961-11521962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372583185	chr7:11522008-11522009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534272172	chr7:11522100-11522101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2107141	chr7:11522119-11522120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35045824	chr7:11522121-11522122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562933852	chr7:11522131-11522132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4720990	chr7:11522155-11522156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79480406	chr7:11522178-11522179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181834758	chr7:11522225-11522226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78501410	chr7:11522262-11522263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138992368	chr7:11522266-11522267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186394305	chr7:11522326-11522327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554114581	chr7:11522333-11522334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113007892	chr7:11522340-11522341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574108540	chr7:11522359-11522360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75127769	chr7:11522360-11522361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142156527	chr7:11522377-11522378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532733756	chr7:11522408-11522409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17164653	chr7:11522422-11522423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370944452	chr7:11522440-11522441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374301838	chr7:11522483-11522484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548923292	chr7:11522484-11522485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10486133	chr7:11522525-11522526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:10 , 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	chr7:11514200-11522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:11514200-11531600	Weak transcription	Fetal Lung	lung
4	chr7:11514800-11523000	Weak transcription	Placenta	Placenta
5	chr7:11520200-11523600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:11520400-11525000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:11521400-11521600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:11521400-11521600	ZNF genes & repeats	Pancreas	Pancrea
9	chr7:11521600-11538600	Weak transcription	Pancreas	Pancrea
10	chr7:11522200-11522600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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