Variant report

Variant	esv3451591
Chromosome Location	chr9:6929067-6929614
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	chr9:6928105..6930890-chr9:6932209..6935061,3	K562	blood:
2	chr9:6921809..6924418-chr9:6928929..6932002,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185767992	chr9:6929120-6929121	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190725097	chr9:6929123-6929124	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555007797	chr9:6929164-6929165	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573956351	chr9:6929223-6929224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182970628	chr9:6929229-6929230	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs56185621	chr9:6929244-6929245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188772833	chr9:6929256-6929257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544921815	chr9:6929345-6929346	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370131807	chr9:6929359-6929360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs193296036	chr9:6929390-6929391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10975907	chr9:6929401-6929402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183237880	chr9:6929404-6929405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370582325	chr9:6929421-6929422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562923624	chr9:6929471-6929472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367749010	chr9:6929472-6929473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79920391	chr9:6929473-6929474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560565875	chr9:6929476-6929477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528108459	chr9:6929477-6929478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59537472	chr9:6929486-6929487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142272337	chr9:6929490-6929491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62533764	chr9:6929492-6929493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143286274	chr9:6929498-6929499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187267603	chr9:6929516-6929517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114790993	chr9:6929563-6929564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532727666	chr9:6929580-6929581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147540269	chr9:6929583-6929584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11789248	chr9:6929602-6929603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6890000-6987200	Weak transcription	Aorta	Aorta
2	chr9:6893800-6981600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr9:6894800-6931600	Weak transcription	Dnd41	blood
4	chr9:6896200-6959000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr9:6897600-6932200	Weak transcription	Small Intestine	intestine
6	chr9:6898200-6930800	Weak transcription	HSMMtube	muscle
7	chr9:6900600-6943000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr9:6901600-6944200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:6901800-6931600	Weak transcription	Fetal Intestine Large	intestine
10	chr9:6902800-6931000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:6903000-6938600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr9:6906400-6933200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:6906600-6938200	Weak transcription	Adipose Nuclei	Adipose
14	chr9:6908800-6942600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:6912400-6930800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:6912400-6931000	Weak transcription	Right Ventricle	heart
17	chr9:6912400-6931600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:6912400-6932200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:6912400-6932200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:6912400-6932200	Weak transcription	Spleen	Spleen
21	chr9:6912400-6978400	Weak transcription	Esophagus	oesophagus
22	chr9:6912600-6929600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:6916000-6932200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:6920200-6930000	Weak transcription	HSMM	muscle
25	chr9:6920200-6930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr9:6920200-6931000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:6920200-6931000	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:6920400-6931000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:6921400-6934000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr9:6921600-6939200	Weak transcription	Fetal Lung	lung
31	chr9:6921600-6957600	Weak transcription	Thymus	Thymus
32	chr9:6921800-6960400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr9:6922000-6933600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:6922000-6941600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr9:6922200-6959000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr9:6922600-6944800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:6922600-6981000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:6922800-6932000	Weak transcription	Lung	lung
39	chr9:6923000-6929200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:6923000-6929600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:6923000-6929600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:6923200-6930800	Weak transcription	Hela-S3	cervix
43	chr9:6923200-6930800	Weak transcription	HMEC	breast
44	chr9:6923400-6929200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:6924400-6929200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:6924600-6931000	Weak transcription	Fetal Intestine Small	intestine
47	chr9:6924600-6957400	Weak transcription	Fetal Thymus	thymus
48	chr9:6926000-6932000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr9:6926200-6930800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:6926200-6933200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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