Variant report

Variant	nsv613268
Chromosome Location	chr9:7734250-7770942
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	chr9:7767607..7770435-chr9:7773162..7775185,2	K562	blood:
4	chr9:7740039..7741870-chr9:7890019..7892015,2	K562	blood:

Extended variants
information (count: 844 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10758892	chr9:7734250-7734251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs370892759	chr9:7734265-7734266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532579025	chr9:7734289-7734290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548626879	chr9:7734343-7734344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567137601	chr9:7734360-7734361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12344462	chr9:7734480-7734481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551727121	chr9:7734546-7734547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10976533	chr9:7734561-7734562	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188802069	chr9:7734588-7734589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556222298	chr9:7734606-7734607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568191538	chr9:7734657-7734658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535622618	chr9:7734666-7734667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111688114	chr9:7734684-7734685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148343496	chr9:7734704-7734705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540637315	chr9:7734707-7734708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558954046	chr9:7734711-7734712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77266627	chr9:7734724-7734725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76027729	chr9:7734732-7734733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116039960	chr9:7734742-7734743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140905350	chr9:7734764-7734765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200822764	chr9:7734767-7734768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141584152	chr9:7734829-7734830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369492605	chr9:7734840-7734841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181178771	chr9:7734849-7734850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560435027	chr9:7734913-7734914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566634253	chr9:7735007-7735008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527932746	chr9:7735012-7735013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139746745	chr9:7735014-7735015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570159638	chr9:7735042-7735043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531315270	chr9:7735089-7735090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184531109	chr9:7735110-7735111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142399981	chr9:7735116-7735117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113684037	chr9:7735146-7735147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553887963	chr9:7735147-7735148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565992001	chr9:7735159-7735160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539782594	chr9:7735163-7735164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537979527	chr9:7735168-7735169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558078508	chr9:7735170-7735171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577335101	chr9:7735208-7735209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553919998	chr9:7735249-7735250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189415225	chr9:7735277-7735278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112355202	chr9:7735279-7735280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17629093	chr9:7735283-7735284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542059252	chr9:7735303-7735304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555869820	chr9:7735305-7735306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560270799	chr9:7735329-7735330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370739172	chr9:7735345-7735346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527878154	chr9:7735357-7735358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145936468	chr9:7735361-7735362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77456429	chr9:7735376-7735377	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:48 , 50 per page) page: 1

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

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