Variant report

Variant	esv3380391
Chromosome Location	chr9:6929852-6931750
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	chr9:6921809..6924418-chr9:6928929..6932002,3	MCF-7	breast:
2	chr9:6928105..6930890-chr9:6932209..6935061,3	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11794732	chr9:6929863-6929864	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192151774	chr9:6929883-6929884	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11788849	chr9:6929894-6929895	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183912766	chr9:6929900-6929901	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189953536	chr9:6929901-6929902	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575263020	chr9:6929914-6929915	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs137888707	chr9:6929919-6929920	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192297681	chr9:6929986-6929987	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114623919	chr9:6930051-6930052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184642959	chr9:6930057-6930058	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565530762	chr9:6930095-6930096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532695658	chr9:6930108-6930109	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551128222	chr9:6930109-6930110	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74909709	chr9:6930124-6930125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542113892	chr9:6930130-6930131	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530355557	chr9:6930224-6930225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375833196	chr9:6930229-6930230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201203991	chr9:6930262-6930263	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567017889	chr9:6930271-6930272	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11788152	chr9:6930278-6930279	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10975908	chr9:6930280-6930281	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571474166	chr9:6930281-6930282	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7022938	chr9:6930297-6930298	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564207266	chr9:6930307-6930308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557256192	chr9:6930343-6930344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568936544	chr9:6930391-6930392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189206939	chr9:6930406-6930407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554231253	chr9:6930414-6930415	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7038154	chr9:6930415-6930416	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11788187	chr9:6930416-6930417	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376527508	chr9:6930431-6930432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143402522	chr9:6930452-6930453	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35673136	chr9:6930458-6930459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181774300	chr9:6930460-6930461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560750268	chr9:6930496-6930497	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529558809	chr9:6930543-6930544	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577434186	chr9:6930545-6930546	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544565874	chr9:6930549-6930550	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34337840	chr9:6930550-6930551	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397894689	chr9:6930551-6930552	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565936372	chr9:6930556-6930557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563226936	chr9:6930559-6930560	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149464857	chr9:6930562-6930563	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542483156	chr9:6930592-6930593	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140847707	chr9:6930615-6930616	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398113183	chr9:6930617-6930618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199889039	chr9:6930618-6930619	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560530849	chr9:6930638-6930639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368128727	chr9:6930659-6930660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60606351	chr9:6930661-6930662	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	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:133 , 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	chr9:6916000-6932200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:6920200-6930000	Weak transcription	HSMM	muscle
24	chr9:6920200-6930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr9:6920200-6931000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:6920200-6931000	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:6920400-6931000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:6921400-6934000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr9:6921600-6939200	Weak transcription	Fetal Lung	lung
30	chr9:6921600-6957600	Weak transcription	Thymus	Thymus
31	chr9:6921800-6960400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr9:6922000-6933600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr9:6922000-6941600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:6922200-6959000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr9:6922600-6944800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr9:6922600-6981000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:6922800-6932000	Weak transcription	Lung	lung
38	chr9:6923200-6930800	Weak transcription	Hela-S3	cervix
39	chr9:6923200-6930800	Weak transcription	HMEC	breast
40	chr9:6924600-6931000	Weak transcription	Fetal Intestine Small	intestine
41	chr9:6924600-6957400	Weak transcription	Fetal Thymus	thymus
42	chr9:6926000-6932000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:6926200-6930800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:6926200-6933200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:6926400-6930000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:6926800-6931600	Weak transcription	Placenta	Placenta
47	chr9:6926800-6938600	Weak transcription	Brain Angular Gyrus	brain
48	chr9:6927400-6931200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:6927600-6932000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:6928200-6932000	Weak transcription	Primary B cells from peripheral blood	blood

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