Variant report

Variant	nsv1017016
Chromosome Location	chr9:1483886-1575368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:1474110..1476318-chr9:1485269..1488138,2	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:
4	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
5	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:

Extended variants
information (count: 4006 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:4006 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557461154	chr9:1483895-1483896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77655812	chr9:1483911-1483912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79141379	chr9:1483912-1483913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553179370	chr9:1483913-1483914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562448929	chr9:1483924-1483925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573006714	chr9:1483980-1483981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577429168	chr9:1483985-1483986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541939861	chr9:1484007-1484008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546353926	chr9:1484048-1484049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558442358	chr9:1484057-1484058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572248940	chr9:1484081-1484082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192546384	chr9:1484084-1484085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555451558	chr9:1484088-1484089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561243673	chr9:1484110-1484111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529597932	chr9:1484185-1484186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531483231	chr9:1484206-1484207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575200031	chr9:1484210-1484211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145423093	chr9:1484228-1484229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563013120	chr9:1484252-1484253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375643247	chr9:1484300-1484301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552278314	chr9:1484313-1484314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566139497	chr9:1484348-1484349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377755894	chr9:1484355-1484356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548560112	chr9:1484367-1484368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141412711	chr9:1484394-1484395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537406896	chr9:1484403-1484404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557375924	chr9:1484412-1484413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183471583	chr9:1484414-1484415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570885819	chr9:1484442-1484443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370355185	chr9:1484445-1484446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73640476	chr9:1484469-1484470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76754208	chr9:1484480-1484481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572103192	chr9:1484500-1484501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541222441	chr9:1484505-1484506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544769792	chr9:1484508-1484509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574410249	chr9:1484509-1484510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188154131	chr9:1484514-1484515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145144476	chr9:1484515-1484516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4741416	chr9:1484527-1484528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545571673	chr9:1484541-1484542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532668677	chr9:1484550-1484551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546016547	chr9:1484598-1484599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559409951	chr9:1484599-1484600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528632786	chr9:1484647-1484648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548779029	chr9:1484676-1484677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192801190	chr9:1484700-1484701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12347907	chr9:1484735-1484736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570847430	chr9:1484738-1484739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184687002	chr9:1484771-1484772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546728682	chr9:1484781-1484782	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1465600-1490800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1489200-1490000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:1489400-1490000	Enhancers	GM12878-XiMat	blood
4	chr9:1489400-1491000	Enhancers	HSMMtube	muscle
5	chr9:1490000-1490400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:1490000-1491000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:1490000-1491200	Flanking Active TSS	GM12878-XiMat	blood
8	chr9:1490200-1490800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:1490200-1491000	Enhancers	Fetal Muscle Leg	muscle
10	chr9:1490400-1490600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:1490400-1490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:1490600-1491200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:1490800-1491000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:1490800-1491000	Enhancers	Adipose Nuclei	Adipose
15	chr9:1490800-1492000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:1491000-1491200	Enhancers	Pancreas	Pancrea
17	chr9:1491000-1491200	Enhancers	Psoas Muscle	Psoas
18	chr9:1491000-1492200	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
20	chr9:1491200-1491400	Enhancers	GM12878-XiMat	blood
21	chr9:1491200-1492200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:1491200-1492400	Weak transcription	Psoas Muscle	Psoas
23	chr9:1492000-1493000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:1492200-1492800	Enhancers	Fetal Muscle Leg	muscle
25	chr9:1492400-1492600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:1492400-1492600	Enhancers	Psoas Muscle	Psoas
27	chr9:1495800-1496000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:1496200-1496400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:1496800-1497000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:1497000-1497200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
32	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
33	chr9:1511000-1511200	Enhancers	NHEK	skin
34	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
35	chr9:1512800-1514200	Enhancers	NHEK	skin
36	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
40	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
41	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas
42	chr9:1514400-1515000	Enhancers	Fetal Stomach	stomach
43	chr9:1514400-1515800	Enhancers	GM12878-XiMat	blood
44	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
45	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:1515000-1515600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr9:1515600-1516000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:1515600-1516000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:1515600-1516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:1515800-1516200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links