Variant report

Variant	nsv1033431
Chromosome Location	chr9:1378131-1403641
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	chr9:1376504..1378788-chr9:1379688..1382512,2	MCF-7	breast:
2	chr9:1376504..1378788-chr9:1379688..1382512,2	MCF-7	breast:

Extended variants
information (count: 653 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533358194	chr9:1378131-1378132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576314368	chr9:1378180-1378181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369277546	chr9:1378185-1378186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550302478	chr9:1378224-1378225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1412250	chr9:1378243-1378244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565121630	chr9:1378281-1378282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527485402	chr9:1378284-1378285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541184448	chr9:1378285-1378286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561382887	chr9:1378287-1378288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34858716	chr9:1378302-1378303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530187516	chr9:1378313-1378314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550174936	chr9:1378314-1378315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138407454	chr9:1378333-1378334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531269672	chr9:1378345-1378346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532878513	chr9:1378368-1378369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552594819	chr9:1378398-1378399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373742139	chr9:1378411-1378412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143090714	chr9:1378417-1378418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535642171	chr9:1378420-1378421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187628073	chr9:1378425-1378426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567044917	chr9:1378431-1378432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145153825	chr9:1378459-1378460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115055748	chr9:1378461-1378462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138925704	chr9:1378468-1378469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149355972	chr9:1378499-1378500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533574115	chr9:1378515-1378516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572334453	chr9:1378516-1378517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13290677	chr9:1378523-1378524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541249393	chr9:1378541-1378542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13295667	chr9:1378551-1378552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112604168	chr9:1378573-1378574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538948791	chr9:1378583-1378584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192596228	chr9:1378602-1378603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144657228	chr9:1378611-1378612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77988084	chr9:1378641-1378642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539357980	chr9:1378647-1378648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532408602	chr9:1378665-1378666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115765483	chr9:1378706-1378707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs665130	chr9:1378707-1378708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528733572	chr9:1378736-1378737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530829010	chr9:1378764-1378765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12346472	chr9:1378772-1378773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536387827	chr9:1378795-1378796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549612822	chr9:1378803-1378804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148544875	chr9:1378829-1378830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538271835	chr9:1378831-1378832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143912279	chr9:1378846-1378847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572395248	chr9:1378867-1378868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12341801	chr9:1378881-1378882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558157366	chr9:1378914-1378915	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1373600-1384000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1377200-1378200	Enhancers	Fetal Muscle Leg	muscle
3	chr9:1378000-1378400	Enhancers	Psoas Muscle	Psoas
4	chr9:1378200-1384000	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:1379600-1384800	Weak transcription	Psoas Muscle	Psoas
6	chr9:1383600-1385400	Enhancers	Fetal Lung	lung
7	chr9:1384000-1384200	Enhancers	Fetal Muscle Leg	muscle
8	chr9:1384000-1386200	Enhancers	Adipose Nuclei	Adipose
9	chr9:1384200-1385000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:1384200-1386400	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:1384800-1385000	Enhancers	Psoas Muscle	Psoas
12	chr9:1386200-1387800	Weak transcription	Adipose Nuclei	Adipose
13	chr9:1386400-1386800	Enhancers	Fetal Muscle Leg	muscle
14	chr9:1387800-1388000	Enhancers	Adipose Nuclei	Adipose
15	chr9:1401600-1401800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:1401600-1402400	Enhancers	Brain Cingulate Gyrus	brain
17	chr9:1401600-1402400	Enhancers	Brain Substantia Nigra	brain
18	chr9:1401800-1402800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:1402000-1402400	Enhancers	Brain Hippocampus Middle	brain
20	chr9:1402400-1402800	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:1402400-1403200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:1402400-1403400	Weak transcription	Brain Substantia Nigra	brain
23	chr9:1402800-1403400	Enhancers	Brain Hippocampus Middle	brain
24	chr9:1402800-1403600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:1403000-1403400	Enhancers	Brain Angular Gyrus	brain
26	chr9:1403200-1403400	Enhancers	Brain Cingulate Gyrus	brain
27	chr9:1403400-1403600	Enhancers	Brain Substantia Nigra	brain

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