Variant report

Variant	nsv1024603
Chromosome Location	chr9:1499410-1575368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
2	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
3	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:

Extended variants
information (count: 2973 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2973 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184436163	chr9:1499411-1499412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543205951	chr9:1499428-1499429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563190747	chr9:1499450-1499451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556288326	chr9:1499462-1499463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532260904	chr9:1499481-1499482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201263099	chr9:1499488-1499489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552455032	chr9:1499504-1499505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563808689	chr9:1499505-1499506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565507200	chr9:1499511-1499512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528109315	chr9:1499513-1499514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138581793	chr9:1499575-1499576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142018336	chr9:1499585-1499586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188115497	chr9:1499594-1499595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370127382	chr9:1499595-1499596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546858333	chr9:1499609-1499610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150686218	chr9:1499618-1499619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192726155	chr9:1499635-1499636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1331999	chr9:1499641-1499642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553643361	chr9:1499662-1499663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573487772	chr9:1499679-1499680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541808134	chr9:1499743-1499744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75744267	chr9:1499757-1499758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548816720	chr9:1499775-1499776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369933308	chr9:1499779-1499780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138725352	chr9:1499783-1499784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563103507	chr9:1499800-1499801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532352749	chr9:1499834-1499835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373315051	chr9:1499839-1499840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568903174	chr9:1499853-1499854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559574764	chr9:1499860-1499861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542113459	chr9:1499893-1499894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149347243	chr9:1499899-1499900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548199021	chr9:1499924-1499925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55977818	chr9:1499932-1499933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75675633	chr9:1499935-1499936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376420162	chr9:1499947-1499948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550702873	chr9:1499961-1499962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146345936	chr9:1499966-1499967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185088736	chr9:1499970-1499971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79794200	chr9:1500000-1500001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567147446	chr9:1500041-1500042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149627732	chr9:1500044-1500045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4741437	chr9:1500059-1500060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575243488	chr9:1500069-1500070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537915760	chr9:1500075-1500076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140013053	chr9:1500114-1500115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7860026	chr9:1500138-1500139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs578053321	chr9:1500143-1500144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545961000	chr9:1500157-1500158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139595369	chr9:1500162-1500163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
3	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
4	chr9:1511000-1511200	Enhancers	NHEK	skin
5	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
6	chr9:1512800-1514200	Enhancers	NHEK	skin
7	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
11	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
12	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas
13	chr9:1514400-1515000	Enhancers	Fetal Stomach	stomach
14	chr9:1514400-1515800	Enhancers	GM12878-XiMat	blood
15	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
16	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:1515000-1515600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:1515600-1516000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:1515600-1516000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:1515600-1516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:1515800-1516200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:1521600-1522200	Enhancers	Fetal Muscle Leg	muscle
23	chr9:1521600-1523600	Enhancers	GM12878-XiMat	blood
24	chr9:1521800-1523000	Enhancers	Fetal Lung	lung
25	chr9:1522200-1522600	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:1522600-1523400	Enhancers	Fetal Muscle Leg	muscle
27	chr9:1522600-1523800	Enhancers	Adipose Nuclei	Adipose
28	chr9:1523400-1527800	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:1527800-1530000	Enhancers	Fetal Muscle Leg	muscle
30	chr9:1529600-1530000	Enhancers	Pancreas	Pancrea
31	chr9:1530000-1531200	Weak transcription	Pancreas	Pancrea
32	chr9:1531200-1532600	Enhancers	Pancreas	Pancrea
33	chr9:1531200-1533400	Enhancers	Fetal Muscle Leg	muscle
34	chr9:1531400-1533200	Enhancers	Fetal Stomach	stomach
35	chr9:1532400-1532600	Enhancers	Fetal Muscle Trunk	muscle
36	chr9:1533200-1533400	Enhancers	Fetal Muscle Trunk	muscle
37	chr9:1535400-1537400	Enhancers	GM12878-XiMat	blood
38	chr9:1549400-1558600	Weak transcription	Adipose Nuclei	Adipose
39	chr9:1550600-1551000	Enhancers	Fetal Muscle Leg	muscle
40	chr9:1551000-1553200	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:1553200-1554600	Enhancers	Fetal Muscle Leg	muscle
42	chr9:1553200-1555200	Enhancers	Fetal Lung	lung
43	chr9:1553600-1554000	Enhancers	Fetal Stomach	stomach
44	chr9:1554000-1554600	Enhancers	Fetal Kidney	kidney
45	chr9:1558400-1559200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr9:1558600-1558800	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr9:1574600-1575000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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