Variant report

Variant	nsv892314
Chromosome Location	chr9:10260263-10279606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
2	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:
3	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:

Extended variants
information (count: 904 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2475335	chr9:10260263-10260264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs138037878	chr9:10260271-10260272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181059561	chr9:10260283-10260284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141465750	chr9:10260291-10260292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528435306	chr9:10260317-10260318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150857996	chr9:10260326-10260327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565375620	chr9:10260341-10260342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185635232	chr9:10260396-10260397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551210148	chr9:10260401-10260402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554057563	chr9:10260404-10260405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190491568	chr9:10260410-10260411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182983216	chr9:10260415-10260416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75357153	chr9:10260416-10260417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140391407	chr9:10260429-10260430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138136071	chr9:10260451-10260452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77881577	chr9:10260478-10260479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534319296	chr9:10260495-10260496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189005086	chr9:10260503-10260504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570996443	chr9:10260508-10260509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576982404	chr9:10260523-10260524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536715242	chr9:10260527-10260528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556762164	chr9:10260575-10260576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191856380	chr9:10260592-10260593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542917925	chr9:10260596-10260597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545990126	chr9:10260605-10260606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184151671	chr9:10260619-10260620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556220424	chr9:10260661-10260662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529861999	chr9:10260665-10260666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187446890	chr9:10260690-10260691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573236398	chr9:10260692-10260693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545057593	chr9:10260730-10260731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79974784	chr9:10260743-10260744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147251061	chr9:10260757-10260758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566679364	chr9:10260766-10260767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561473432	chr9:10260784-10260785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191579226	chr9:10260819-10260820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79669993	chr9:10260827-10260828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567029131	chr9:10260882-10260883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201481212	chr9:10260950-10260951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2475336	chr9:10260951-10260952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs199912936	chr9:10260952-10260953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184150993	chr9:10260973-10260974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138277602	chr9:10260989-10260990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187262969	chr9:10260997-10260998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536755350	chr9:10261000-10261001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541299838	chr9:10261005-10261006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556599448	chr9:10261006-10261007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367821049	chr9:10261023-10261024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567494949	chr9:10261032-10261033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192085366	chr9:10261039-10261040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10255400-10268600	Weak transcription	Fetal Heart	heart
2	chr9:10259800-10260400	Enhancers	Brain Substantia Nigra	brain
3	chr9:10259800-10263800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:10260000-10261400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:10260400-10260800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:10260400-10260800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:10260400-10260800	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:10263200-10264200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr9:10263800-10264000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:10263800-10264000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:10263800-10264200	ZNF genes & repeats	Pancreas	Pancrea
12	chr9:10264200-10271600	Weak transcription	Pancreas	Pancrea
13	chr9:10264600-10265000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:10264600-10266200	Enhancers	HUVEC	blood vessel
15	chr9:10264800-10265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:10264800-10265400	Enhancers	NHEK	skin
17	chr9:10264800-10265800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:10264800-10265800	Enhancers	NH-A	brain
19	chr9:10265000-10265600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:10265000-10265600	Enhancers	HMEC	breast
21	chr9:10265000-10265800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:10265000-10266000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:10265200-10265600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:10265200-10265800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:10265400-10268600	Weak transcription	NHEK	skin
26	chr9:10265600-10268400	Weak transcription	HMEC	breast
27	chr9:10265600-10269000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:10265800-10268600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:10265800-10268600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:10265800-10268600	Weak transcription	NH-A	brain
31	chr9:10266000-10269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:10266200-10268400	Weak transcription	HUVEC	blood vessel
33	chr9:10268400-10268600	Enhancers	Liver	Liver
34	chr9:10268400-10268600	Enhancers	Fetal Lung	lung
35	chr9:10268400-10268600	Enhancers	HUVEC	blood vessel
36	chr9:10268400-10269200	Enhancers	HMEC	breast
37	chr9:10268600-10268800	Active TSS	Brain Hippocampus Middle	brain
38	chr9:10268600-10269000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr9:10268600-10269000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:10268600-10269000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:10268600-10269000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:10268600-10269000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:10268600-10269000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:10268600-10269000	Flanking Active TSS	Liver	Liver
45	chr9:10268600-10269000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr9:10268600-10269000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:10268600-10269000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr9:10268600-10269000	Flanking Active TSS	Fetal Lung	lung
49	chr9:10268600-10269000	Flanking Active TSS	HUVEC	blood vessel
50	chr9:10268600-10269000	Enhancers	NH-A	brain

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