Variant report

Variant	nsv1016692
Chromosome Location	chr9:7731398-7772496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7770682..7773341-chr9:7794081..7796235,2	MCF-7	breast:
2	chr9:7764096..7766786-chr9:7797842..7799916,2	MCF-7	breast:
3	chr9:7740039..7741870-chr9:7890019..7892015,2	K562	blood:
4	chr9:7772004..7774920-chr9:7780666..7782709,2	K562	blood:
5	chr9:7767607..7770435-chr9:7773162..7775185,2	K562	blood:

Extended variants
information (count: 978 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17546584	chr9:7731398-7731399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183972081	chr9:7731414-7731415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116140126	chr9:7731460-7731461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577739582	chr9:7731505-7731506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567418766	chr9:7731522-7731523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188361557	chr9:7731579-7731580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530173001	chr9:7731582-7731583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564106589	chr9:7731597-7731598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563396625	chr9:7731609-7731610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530576703	chr9:7731623-7731624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150666506	chr9:7731667-7731668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372020164	chr9:7731685-7731686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140029969	chr9:7731736-7731737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200395033	chr9:7731739-7731740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117257975	chr9:7731748-7731749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375175809	chr9:7731773-7731774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546901883	chr9:7731822-7731823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180713910	chr9:7731862-7731863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539464811	chr9:7731918-7731919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551332325	chr9:7731925-7731926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149420096	chr9:7731999-7732000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537510851	chr9:7732017-7732018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144453341	chr9:7732039-7732040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186014334	chr9:7732047-7732048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546749390	chr9:7732108-7732109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111710369	chr9:7732133-7732134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192048823	chr9:7732147-7732148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578243388	chr9:7732159-7732160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28674720	chr9:7732161-7732162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1541114	chr9:7732168-7732169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28629242	chr9:7732184-7732185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542754540	chr9:7732189-7732190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10976530	chr9:7732196-7732197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs78594924	chr9:7732206-7732207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79854742	chr9:7732207-7732208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79077956	chr9:7732208-7732209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74602193	chr9:7732209-7732210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139058400	chr9:7732255-7732256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35685285	chr9:7732280-7732281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369070657	chr9:7732281-7732282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182383018	chr9:7732282-7732283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398113194	chr9:7732288-7732289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564855921	chr9:7732324-7732325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62531223	chr9:7732354-7732355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114916972	chr9:7732355-7732356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569754976	chr9:7732360-7732361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143980286	chr9:7732372-7732373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113592369	chr9:7732375-7732376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79833302	chr9:7732384-7732385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146462466	chr9:7732385-7732386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7728800-7731600	Enhancers	Fetal Brain Male	brain
2	chr9:7729800-7735000	Weak transcription	Fetal Brain Female	brain
3	chr9:7733800-7734600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:7734000-7734200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:7734200-7735200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:7734400-7736000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:7735000-7735600	Enhancers	Fetal Brain Female	brain
8	chr9:7735200-7735800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:7735400-7735800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:7741000-7741400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr9:7749200-7749600	Enhancers	Fetal Lung	lung
12	chr9:7754000-7755400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:7754200-7755400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr9:7754800-7755000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:7754800-7755000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:7754800-7755000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:7754800-7755200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:7754800-7755400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:7754800-7755400	Enhancers	HSMMtube	muscle
20	chr9:7755000-7756400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:7755400-7756400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:7755600-7756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:7755600-7756800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr9:7755800-7757200	Enhancers	GM12878-XiMat	blood
25	chr9:7756000-7756600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:7756000-7756800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr9:7756200-7757200	Enhancers	HMEC	breast
28	chr9:7756400-7756600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr9:7756400-7756800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:7756400-7757000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:7756400-7757200	Enhancers	NHEK	skin
32	chr9:7756400-7757400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:7756600-7757200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:7757200-7763000	Weak transcription	GM12878-XiMat	blood
35	chr9:7759400-7760400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:7759400-7760600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:7762600-7763200	Enhancers	Primary B cells from peripheral blood	blood
38	chr9:7762800-7763200	Enhancers	Primary B cells from cord blood	blood
39	chr9:7763000-7763200	Enhancers	GM12878-XiMat	blood
40	chr9:7765000-7768800	Weak transcription	HSMMtube	muscle
41	chr9:7768800-7769400	Enhancers	HSMMtube	muscle
42	chr9:7769200-7769400	Enhancers	Fetal Muscle Leg	muscle
43	chr9:7769400-7769800	Weak transcription	HSMMtube	muscle
44	chr9:7769800-7770600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr9:7769800-7771000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:7769800-7771000	Enhancers	HSMMtube	muscle
47	chr9:7770000-7770800	Enhancers	Fetal Lung	lung
48	chr9:7770200-7771000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:7770400-7770600	Enhancers	Primary hematopoietic stem cells	blood
50	chr9:7770400-7770600	Enhancers	Brain Germinal Matrix	brain

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