Variant report

Variant	nsv1022474
Chromosome Location	chr9:7735724-7770825
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	chr9:7740039..7741870-chr9:7890019..7892015,2	K562	blood:
3	chr9:7767607..7770435-chr9:7773162..7775185,2	K562	blood:
4	chr9:7764096..7766786-chr9:7797842..7799916,2	MCF-7	breast:

Extended variants
information (count: 779 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17629104	chr9:7735724-7735725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569929319	chr9:7735727-7735728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79427822	chr9:7735730-7735731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555003403	chr9:7735740-7735741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189000783	chr9:7735751-7735752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144561089	chr9:7735777-7735778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535983817	chr9:7735796-7735797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377631077	chr9:7735807-7735808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371545786	chr9:7735858-7735859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373619369	chr9:7735859-7735860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367628971	chr9:7735865-7735866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10758893	chr9:7735879-7735880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10758894	chr9:7735889-7735890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576632713	chr9:7735895-7735896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540263812	chr9:7735910-7735911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534652868	chr9:7735911-7735912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369309228	chr9:7741013-7741014	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541295030	chr9:7741026-7741027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs551846302	chr9:7741043-7741044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184518680	chr9:7741094-7741095	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576653775	chr9:7741096-7741097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35438096	chr9:7741097-7741098	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189012056	chr9:7741100-7741101	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549713127	chr9:7741116-7741117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567930526	chr9:7741124-7741125	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs578220141	chr9:7741192-7741193	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543394300	chr9:7741227-7741228	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs10976535	chr9:7741230-7741231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs562955991	chr9:7741245-7741246	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372662135	chr9:7741251-7741252	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10976536	chr9:7741254-7741255	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577557536	chr9:7741262-7741263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369929317	chr9:7741263-7741264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs34203516	chr9:7741266-7741267	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs397795694	chr9:7741274-7741275	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs138722227	chr9:7741275-7741276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145532677	chr9:7741277-7741278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs557004140	chr9:7741290-7741291	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575113232	chr9:7741302-7741303	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs147438516	chr9:7741309-7741310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548693819	chr9:7741320-7741321	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539033327	chr9:7741324-7741325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs139197556	chr9:7741335-7741336	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374022953	chr9:7741338-7741339	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572763004	chr9:7741352-7741353	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559090574	chr9:7741354-7741355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs540129548	chr9:7741355-7741356	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149782543	chr9:7741369-7741370	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561908635	chr9:7749215-7749216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529218924	chr9:7749216-7749217	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
Pancreatic cancer	21811587	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:44 , 50 per page) page: 1

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

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