Variant report

Variant	esv3381449
Chromosome Location	chr9:6998652-7000650
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	chr9:6996659..6998506-chr9:6999056..7001855,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539678304	chr9:6998652-6998653	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144291650	chr9:6998665-6998666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10975957	chr9:6998670-6998671	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113216461	chr9:6998710-6998711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3931591	chr9:6998741-6998742	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs573806551	chr9:6998776-6998777	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540792730	chr9:6998782-6998783	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200339848	chr9:6998797-6998798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552901851	chr9:6998817-6998818	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577578410	chr9:6998824-6998825	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545638831	chr9:6998827-6998828	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563685273	chr9:6998829-6998830	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28371807	chr9:6998830-6998831	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542848155	chr9:6998839-6998840	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561025998	chr9:6998858-6998859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372813624	chr9:6998905-6998906	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528530231	chr9:6998906-6998907	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546787702	chr9:6998926-6998927	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11790877	chr9:6998948-6998949	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs532445079	chr9:6998965-6998966	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551640545	chr9:6998997-6998998	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10975958	chr9:6999042-6999043	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs10975959	chr9:6999073-6999074	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs818896	chr9:6999081-6999082	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567486435	chr9:6999141-6999142	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs818897	chr9:6999147-6999148	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs11789300	chr9:6999152-6999153	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577566047	chr9:6999193-6999194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544721497	chr9:6999200-6999201	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545826609	chr9:6999221-6999222	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557218073	chr9:6999300-6999301	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145005479	chr9:6999308-6999309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35089166	chr9:6999320-6999321	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542927760	chr9:6999335-6999336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1093709	chr9:6999336-6999337	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs142835684	chr9:6999338-6999339	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199669898	chr9:6999385-6999386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200581982	chr9:6999386-6999387	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182620275	chr9:6999684-6999685	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376790842	chr9:6999724-6999725	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528678183	chr9:6999739-6999740	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540715725	chr9:6999753-6999754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201993681	chr9:6999763-6999764	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34148992	chr9:6999764-6999765	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74500788	chr9:6999773-6999774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532521274	chr9:6999796-6999797	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551021575	chr9:6999802-6999803	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562890103	chr9:6999816-6999817	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187530876	chr9:6999819-6999820	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10122718	chr9:6999846-6999847	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:104)

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
Ovarian clear cell carcinoma	21343371	CNVD
Renal cell carcinoma	21215367	CNVD
Cancer	21215367	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6972000-7013200	Weak transcription	Fetal Kidney	kidney
2	chr9:6974200-6999800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:6976200-7011800	Weak transcription	Psoas Muscle	Psoas
4	chr9:6977000-7008200	Strong transcription	Primary B cells from cord blood	blood
5	chr9:6977600-6999200	Strong transcription	Primary T cells from cord blood	blood
6	chr9:6977800-7008200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:6978800-7008200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:6979600-7008000	Weak transcription	NHEK	skin
9	chr9:6979800-7018600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:6980200-7008400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr9:6980800-7004200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr9:6981400-7008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:6981400-7011200	Weak transcription	HUVEC	blood vessel
14	chr9:6981600-6999000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:6982600-6998800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr9:6982600-7000200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr9:6982600-7008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:6982600-7008200	Weak transcription	NHLF	lung
19	chr9:6982800-7004200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:6983000-7008600	Weak transcription	Fetal Brain Female	brain
21	chr9:6983400-7010200	Weak transcription	Stomach Mucosa	stomach
22	chr9:6983800-7008200	Weak transcription	A549	lung
23	chr9:6984000-7018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:6985200-7007800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr9:6985200-7008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:6985600-7008000	Weak transcription	K562	blood
27	chr9:6985600-7008200	Weak transcription	Right Ventricle	heart
28	chr9:6985600-7008400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:6985600-7011200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:6985600-7019200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:6985600-7035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr9:6986800-7015600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:6987200-7008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:6987200-7008000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr9:6987200-7008200	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:6987200-7008200	Weak transcription	NHDF-Ad	bronchial
37	chr9:6987200-7008400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:6987400-7008000	Weak transcription	Brain Angular Gyrus	brain
39	chr9:6987400-7008600	Weak transcription	Hela-S3	cervix
40	chr9:6987600-7008000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:6987600-7008000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:6987600-7008000	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:6987600-7008000	Weak transcription	HepG2	liver
44	chr9:6987600-7008200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr9:6987600-7008400	Weak transcription	Osteobl	bone
46	chr9:6987800-7004000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr9:6988800-7008200	Weak transcription	Aorta	Aorta
48	chr9:6988800-7008200	Weak transcription	Small Intestine	intestine
49	chr9:6989200-7008000	Weak transcription	Dnd41	blood
50	chr9:6991600-7008000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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