Variant report

Variant	nsv8406
Chromosome Location	chr9:1248354-1262348
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	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:

Extended variants
information (count: 681 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:681 , 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	rs182078324	chr9:1248473-1248474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78266270	chr9:1248484-1248485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376512089	chr9:1248505-1248506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185556439	chr9:1248569-1248570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190464219	chr9:1248592-1248593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151091879	chr9:1248619-1248620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554959769	chr9:1248641-1248642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568676221	chr9:1248644-1248645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577084380	chr9:1248656-1248657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537623290	chr9:1248672-1248673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370842055	chr9:1248698-1248699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140104473	chr9:1248704-1248705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576223201	chr9:1248712-1248713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539584278	chr9:1248716-1248717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143952045	chr9:1248769-1248770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558591465	chr9:1248793-1248794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571944523	chr9:1248804-1248805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535991625	chr9:1248905-1248906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375020777	chr9:1248971-1248972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34828578	chr9:1249060-1249061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561010873	chr9:1249072-1249073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139106429	chr9:1249124-1249125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372162992	chr9:1249125-1249126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529928448	chr9:1249154-1249155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141102083	chr9:1249168-1249169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537239730	chr9:1249186-1249187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574256041	chr9:1249189-1249190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201737750	chr9:1249224-1249225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199829265	chr9:1249227-1249228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373395609	chr9:1249237-1249238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56993419	chr9:1249256-1249257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67531152	chr9:1249258-1249259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200756796	chr9:1249259-1249260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58241539	chr9:1249271-1249272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368100492	chr9:1249272-1249273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371916033	chr9:1249274-1249275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563109438	chr9:1249278-1249279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570787815	chr9:1249328-1249329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140551032	chr9:1249352-1249353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552204660	chr9:1249442-1249443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79715418	chr9:1249454-1249455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528465257	chr9:1249480-1249481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548895794	chr9:1249492-1249493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181770379	chr9:1249549-1249550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537709316	chr9:1249558-1249559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372366380	chr9:1249562-1249563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375388043	chr9:1249587-1249588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373265872	chr9:1249627-1249628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367792117	chr9:1249628-1249629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73373912	chr9:1249629-1249630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1239000-1253400	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:1248600-1249000	Enhancers	Psoas Muscle	Psoas
3	chr9:1249000-1253200	Weak transcription	Psoas Muscle	Psoas
4	chr9:1252600-1254400	Enhancers	Adipose Nuclei	Adipose
5	chr9:1252800-1253200	Enhancers	Liver	Liver
6	chr9:1252800-1253800	Enhancers	HSMMtube	muscle
7	chr9:1253000-1253200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:1253000-1253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:1253200-1253600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:1253200-1253600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:1253200-1253600	Flanking Active TSS	Liver	Liver
12	chr9:1253200-1253800	Enhancers	Psoas Muscle	Psoas
13	chr9:1253200-1254000	Enhancers	Fetal Lung	lung
14	chr9:1253200-1254000	Enhancers	Fetal Stomach	stomach
15	chr9:1253200-1254400	Enhancers	Fetal Kidney	kidney
16	chr9:1253400-1253800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr9:1253400-1254000	Enhancers	Fetal Muscle Leg	muscle
18	chr9:1253600-1253800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:1253600-1254000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:1253600-1254000	Enhancers	HepG2	liver
21	chr9:1253600-1254200	Enhancers	Liver	Liver
22	chr9:1253800-1254800	Enhancers	Fetal Brain Male	brain
23	chr9:1254000-1255800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:1254400-1255800	Weak transcription	Adipose Nuclei	Adipose
25	chr9:1255800-1256200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:1255800-1256200	Enhancers	Adipose Nuclei	Adipose
27	chr9:1256200-1261200	Weak transcription	Adipose Nuclei	Adipose
28	chr9:1260000-1262600	Enhancers	Colon Smooth Muscle	Colon
29	chr9:1260200-1260400	Enhancers	Pancreas	Pancrea
30	chr9:1260400-1262800	Enhancers	Fetal Muscle Leg	muscle
31	chr9:1260600-1261000	Enhancers	Fetal Intestine Small	intestine
32	chr9:1261000-1261400	Weak transcription	Fetal Intestine Small	intestine
33	chr9:1261200-1261800	Weak transcription	Pancreas	Pancrea
34	chr9:1261200-1262600	Enhancers	Adipose Nuclei	Adipose
35	chr9:1261400-1264000	Enhancers	Fetal Intestine Small	intestine
36	chr9:1261800-1263000	Enhancers	Liver	Liver
37	chr9:1261800-1263400	Enhancers	Fetal Intestine Large	intestine
38	chr9:1262000-1262600	Enhancers	Pancreas	Pancrea
39	chr9:1262200-1263000	Enhancers	HepG2	liver

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