Variant report

Variant	nsv613264
Chromosome Location	chr9:7485343-7510851
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	chr9:7488272..7490593-chr9:7498267..7499824,2	MCF-7	breast:
2	chr9:7488272..7490593-chr9:7498267..7499824,2	MCF-7	breast:

Extended variants
information (count: 631 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144472165	chr9:7487291-7487292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530547233	chr9:7487297-7487298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370459297	chr9:7487304-7487305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549155986	chr9:7487341-7487342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13292874	chr9:7487363-7487364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534868848	chr9:7487398-7487399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553326561	chr9:7487446-7487447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566044591	chr9:7487472-7487473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147428442	chr9:7487505-7487506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557897513	chr9:7487538-7487539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563464614	chr9:7487573-7487574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557717179	chr9:7487588-7487589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577863128	chr9:7487620-7487621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543594754	chr9:7487625-7487626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555886806	chr9:7487662-7487663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376208621	chr9:7487665-7487666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370845735	chr9:7487723-7487724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148729297	chr9:7487736-7487737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559632463	chr9:7487737-7487738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181099875	chr9:7487768-7487769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185082553	chr9:7487777-7487778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563182398	chr9:7487799-7487800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142261420	chr9:7487811-7487812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10976316	chr9:7487841-7487842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543114054	chr9:7487842-7487843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16926236	chr9:7487847-7487848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542311238	chr9:7487852-7487853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369953217	chr9:7487913-7487914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562166657	chr9:7487920-7487921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190615410	chr9:7487946-7487947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151283129	chr9:7487948-7487949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114888833	chr9:7487950-7487951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10976317	chr9:7487974-7487975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs564556638	chr9:7487992-7487993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372334522	chr9:7487996-7487997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140483788	chr9:7488013-7488014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546654748	chr9:7488014-7488015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569957714	chr9:7488031-7488032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370312139	chr9:7488032-7488033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537504295	chr9:7488033-7488034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11791432	chr9:7488117-7488118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555460957	chr9:7488158-7488159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573858971	chr9:7488179-7488180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541209996	chr9:7488187-7488188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553178471	chr9:7488190-7488191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578193556	chr9:7488196-7488197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545416554	chr9:7488239-7488240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571653001	chr9:7488282-7488283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79731409	chr9:7488327-7488328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575154583	chr9:7488356-7488357	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
Melanoma	18172304	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7487200-7488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:7487400-7488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:7487600-7488200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr9:7488400-7490200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:7488400-7490400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:7488600-7490400	Enhancers	Fetal Muscle Leg	muscle
7	chr9:7488600-7491200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr9:7489000-7490200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:7489200-7489600	Enhancers	Fetal Lung	lung
10	chr9:7489200-7489600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr9:7489600-7490400	Enhancers	Colonic Mucosa	Colon
12	chr9:7490400-7493800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:7493800-7494400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:7493800-7494600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:7503400-7503800	Enhancers	Ovary	ovary
16	chr9:7506600-7508200	Enhancers	Fetal Heart	heart
17	chr9:7507000-7511400	Enhancers	Fetal Lung	lung
18	chr9:7507400-7507800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:7507600-7508200	Enhancers	Left Ventricle	heart
20	chr9:7507800-7509600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:7508200-7510200	Weak transcription	Left Ventricle	heart
22	chr9:7509800-7510000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:7509800-7510000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:7509800-7510000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:7510000-7510200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:7510000-7510200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:7510000-7510400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:7510000-7510600	Enhancers	Ovary	ovary
29	chr9:7510200-7510400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:7510200-7510400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:7510200-7510400	Enhancers	Left Ventricle	heart
32	chr9:7510400-7510600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:7510400-7510800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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