Variant report

Variant	nsv8079
Chromosome Location	chr7:38510794-38513768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:38512209..38514500-chr7:38517121..38519244,2	K562	blood:
2	chr7:38510679..38513709-chr7:38513758..38517048,3	K562	blood:
3	chr7:38510679..38513709-chr7:38513758..38517048,3	K562	blood:
4	chr7:38510679..38513066-chr7:38514460..38517048,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141086565	chr7:38510795-38510796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570443372	chr7:38510817-38510818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6969360	chr7:38510842-38510843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184379572	chr7:38510851-38510852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1014571	chr7:38510895-38510896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537958931	chr7:38511045-38511046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189036952	chr7:38511046-38511047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192339951	chr7:38511066-38511067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184665102	chr7:38511126-38511127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554178931	chr7:38511134-38511135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375799340	chr7:38511150-38511151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577479744	chr7:38511152-38511153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116805315	chr7:38511154-38511155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150280797	chr7:38511157-38511158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78672277	chr7:38511203-38511204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1030018	chr7:38511233-38511234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569808224	chr7:38511254-38511255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1014572	chr7:38511259-38511260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367686812	chr7:38511310-38511311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558722265	chr7:38511387-38511388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74401274	chr7:38511407-38511408	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs563705388	chr7:38511442-38511443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533088836	chr7:38511460-38511461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200421843	chr7:38511498-38511499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548390339	chr7:38511506-38511507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71548615	chr7:38511565-38511566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550005204	chr7:38511628-38511629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570160578	chr7:38511710-38511711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370580470	chr7:38511721-38511722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74987906	chr7:38511761-38511762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78672931	chr7:38511817-38511818	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs549174852	chr7:38511834-38511835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200045398	chr7:38511865-38511866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201787738	chr7:38511886-38511887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189987957	chr7:38511958-38511959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534249251	chr7:38511961-38511962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547819843	chr7:38511983-38511984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570777283	chr7:38511989-38511990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539446017	chr7:38512034-38512035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556854673	chr7:38512114-38512115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576645547	chr7:38512138-38512139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535680950	chr7:38512189-38512190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180746794	chr7:38512247-38512248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571823513	chr7:38512301-38512302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78611850	chr7:38512302-38512303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs563931890	chr7:38512306-38512307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111534971	chr7:38512349-38512350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75123745	chr7:38512374-38512375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543043321	chr7:38512379-38512380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10280220	chr7:38512390-38512391	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:81)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38499800-38523600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:38501000-38522400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:38501800-38522600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:38502000-38512200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:38502600-38549400	Weak transcription	Fetal Stomach	stomach
6	chr7:38502800-38533800	Weak transcription	Aorta	Aorta
7	chr7:38503800-38522400	Weak transcription	Fetal Lung	lung
8	chr7:38504000-38513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:38504200-38514600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:38512200-38516400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:38513600-38515800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:38513600-38516800	Weak transcription	Fetal Brain Male	brain

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