Variant report

Variant	nsv1022312
Chromosome Location	chr7:13561595-13576298
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	chr7:13564573..13565453-chr7:16110838..16111563,2	K562	blood:
2	chr7:13564462..13565362-chr7:14497193..14498173,5	MCF-7	breast:

Extended variants
information (count: 235 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs12699509	chr7:13561595-13561596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183001289	chr7:13561621-13561622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552338661	chr7:13561700-13561701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368068056	chr7:13561708-13561709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569240992	chr7:13561768-13561769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571661471	chr7:13561795-13561796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540636753	chr7:13561804-13561805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149689880	chr7:13561821-13561822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115571515	chr7:13561850-13561851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543584012	chr7:13561857-13561858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563375339	chr7:13561886-13561887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4445120	chr7:13561891-13561892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4721234	chr7:13561898-13561899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185012275	chr7:13561915-13561916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568575420	chr7:13561934-13561935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374817366	chr7:13561938-13561939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190992865	chr7:13561978-13561979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78432333	chr7:13561997-13561998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568644552	chr7:13562037-13562038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113396521	chr7:13562069-13562070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539779788	chr7:13562111-13562112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145517394	chr7:13562148-13562149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570201882	chr7:13562165-13562166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28410483	chr7:13562215-13562216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2723487	chr7:13562234-13562235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13238361	chr7:13562235-13562236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540599414	chr7:13562279-13562280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12533864	chr7:13562308-13562309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148864139	chr7:13562313-13562314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369659364	chr7:13562335-13562336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76471762	chr7:13562340-13562341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543396788	chr7:13562390-13562391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34817842	chr7:13562395-13562396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529037587	chr7:13562405-13562406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112089680	chr7:13562409-13562410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187600550	chr7:13562453-13562454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562134366	chr7:13562499-13562500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192130152	chr7:13562550-13562551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370750855	chr7:13562568-13562569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183241671	chr7:13562571-13562572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527813636	chr7:13562580-13562581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201702770	chr7:13563016-13563017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146506005	chr7:13563032-13563033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556939550	chr7:13563040-13563041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184620519	chr7:13563061-13563062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542821048	chr7:13563073-13563074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574279449	chr7:13563099-13563100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188209448	chr7:13563128-13563129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540095873	chr7:13563138-13563139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141095604	chr7:13563146-13563147	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13559000-13562200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13562200-13562600	Enhancers	Pancreas	Pancrea
3	chr7:13563000-13563600	Enhancers	Fetal Brain Female	brain
4	chr7:13563200-13563600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:13563200-13563800	Enhancers	Fetal Lung	lung
6	chr7:13563200-13564000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:13563200-13564800	Enhancers	Osteobl	bone
8	chr7:13563400-13563600	Enhancers	NHDF-Ad	bronchial
9	chr7:13563400-13564800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:13563400-13564800	Enhancers	Adipose Nuclei	Adipose
11	chr7:13564400-13564800	Enhancers	Liver	Liver
12	chr7:13564600-13565000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:13564800-13565200	Enhancers	NHDF-Ad	bronchial
14	chr7:13566800-13567200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:13567600-13568000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:13570800-13571800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:13571000-13571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:13571000-13571400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:13571000-13571400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:13571200-13571800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:13571200-13571800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:13575400-13576000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:13576000-13580200	Weak transcription	Muscle Satellite Cultured Cells	--

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