Variant report

Variant	nsv1024615
Chromosome Location	chr9:1490371-1521263
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	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
2	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:

Extended variants
information (count: 2011 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2011 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562336510	chr9:1490379-1490380	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7854227	chr9:1490407-1490408	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs74990583	chr9:1490417-1490418	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185749418	chr9:1490450-1490451	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369059975	chr9:1490453-1490454	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74798018	chr9:1490469-1490470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139342844	chr9:1490471-1490472	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547560150	chr9:1490501-1490502	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557081869	chr9:1490505-1490506	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567566420	chr9:1490515-1490516	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530126549	chr9:1490521-1490522	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556824055	chr9:1490532-1490533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7854400	chr9:1490577-1490578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs539044798	chr9:1490608-1490609	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558747634	chr9:1490636-1490637	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572556428	chr9:1490643-1490644	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541567212	chr9:1490682-1490683	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554007761	chr9:1490683-1490684	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77556451	chr9:1490689-1490690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77421973	chr9:1490691-1490692	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7855501	chr9:1490700-1490701	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545642086	chr9:1490711-1490712	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531182529	chr9:1490714-1490715	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545007875	chr9:1490728-1490729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550101140	chr9:1490732-1490733	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150062114	chr9:1490751-1490752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74987825	chr9:1490763-1490764	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs79445349	chr9:1490767-1490768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs149148960	chr9:1490776-1490777	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550177863	chr9:1490784-1490785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577671101	chr9:1490803-1490804	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570343602	chr9:1490811-1490812	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10810253	chr9:1490830-1490831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs189429557	chr9:1490840-1490841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs374804508	chr9:1490842-1490843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs115706975	chr9:1490857-1490858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555111867	chr9:1490870-1490871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs180978239	chr9:1490877-1490878	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573836880	chr9:1490919-1490920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74599973	chr9:1490922-1490923	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374865397	chr9:1490938-1490939	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74791484	chr9:1490954-1490955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144615669	chr9:1490960-1490961	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs10122967	chr9:1490995-1490996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147910502	chr9:1490996-1490997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141631680	chr9:1491012-1491013	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs540678114	chr9:1491064-1491065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs560671108	chr9:1491083-1491084	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs528922314	chr9:1491103-1491104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77689612	chr9:1491114-1491115	Enhancers Weak transcription Flanking Active TSS	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:48 , 50 per page) page: 1

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

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