Variant report

Variant	nsv1028284
Chromosome Location	chr9:1505457-1540499
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	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
2	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:

Extended variants
information (count: 1880 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1880 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1331998	chr9:1505457-1505458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536703210	chr9:1505461-1505462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532536341	chr9:1505466-1505467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556635500	chr9:1505474-1505475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12346201	chr9:1505483-1505484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1331997	chr9:1505514-1505515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375422336	chr9:1505556-1505557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368279630	chr9:1505557-1505558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34241826	chr9:1505558-1505559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201197505	chr9:1505560-1505561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397722403	chr9:1505561-1505562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527539185	chr9:1505566-1505567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547303060	chr9:1505592-1505593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560693078	chr9:1505599-1505600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188387342	chr9:1505627-1505628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150558561	chr9:1505645-1505646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549545360	chr9:1505677-1505678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181211761	chr9:1505680-1505681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552877948	chr9:1505688-1505689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139552465	chr9:1505689-1505690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185654442	chr9:1505696-1505697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386731559	chr9:1505702-1505703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112691068	chr9:1505703-1505704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202172962	chr9:1505704-1505705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530729421	chr9:1505706-1505707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7038171	chr9:1505750-1505751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575067629	chr9:1505770-1505771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189944336	chr9:1505777-1505778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557120743	chr9:1505795-1505796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182096150	chr9:1505807-1505808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142917373	chr9:1505809-1505810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114403618	chr9:1505836-1505837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1331995	chr9:1505841-1505842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540854737	chr9:1505843-1505844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79251150	chr9:1505864-1505865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7024298	chr9:1505873-1505874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7027576	chr9:1505880-1505881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563147650	chr9:1505890-1505891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187081045	chr9:1505913-1505914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73376133	chr9:1505919-1505920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139469249	chr9:1505928-1505929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77124298	chr9:1505941-1505942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567189920	chr9:1505961-1505962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145021564	chr9:1505967-1505968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10810301	chr9:1505969-1505970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552743031	chr9:1505970-1505971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537345511	chr9:1505983-1505984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557280601	chr9:1506032-1506033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576841190	chr9:1506045-1506046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539517905	chr9:1506047-1506048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1511000-1511200	Enhancers	NHEK	skin
3	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
4	chr9:1512800-1514200	Enhancers	NHEK	skin
5	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
9	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
10	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas
11	chr9:1514400-1515000	Enhancers	Fetal Stomach	stomach
12	chr9:1514400-1515800	Enhancers	GM12878-XiMat	blood
13	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
14	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:1515000-1515600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:1515600-1516000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:1515600-1516000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:1515600-1516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:1515800-1516200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr9:1521600-1522200	Enhancers	Fetal Muscle Leg	muscle
21	chr9:1521600-1523600	Enhancers	GM12878-XiMat	blood
22	chr9:1521800-1523000	Enhancers	Fetal Lung	lung
23	chr9:1522200-1522600	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:1522600-1523400	Enhancers	Fetal Muscle Leg	muscle
25	chr9:1522600-1523800	Enhancers	Adipose Nuclei	Adipose
26	chr9:1523400-1527800	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:1527800-1530000	Enhancers	Fetal Muscle Leg	muscle
28	chr9:1529600-1530000	Enhancers	Pancreas	Pancrea
29	chr9:1530000-1531200	Weak transcription	Pancreas	Pancrea
30	chr9:1531200-1532600	Enhancers	Pancreas	Pancrea
31	chr9:1531200-1533400	Enhancers	Fetal Muscle Leg	muscle
32	chr9:1531400-1533200	Enhancers	Fetal Stomach	stomach
33	chr9:1532400-1532600	Enhancers	Fetal Muscle Trunk	muscle
34	chr9:1533200-1533400	Enhancers	Fetal Muscle Trunk	muscle
35	chr9:1535400-1537400	Enhancers	GM12878-XiMat	blood

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