Variant report

Variant	esv1817310
Chromosome Location	chr9:11632688-11661209
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	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
2	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544190796	chr9:11632695-11632696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112590761	chr9:11632727-11632728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145834413	chr9:11632760-11632761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529126827	chr9:11632775-11632776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138406761	chr9:11632776-11632777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559246413	chr9:11632781-11632782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528271590	chr9:11632795-11632796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551632743	chr9:11632805-11632806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571364836	chr9:11632848-11632849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78250037	chr9:11632865-11632866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550555966	chr9:11632867-11632868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142507920	chr9:11632886-11632887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189387431	chr9:11632901-11632902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553645419	chr9:11632911-11632912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573493488	chr9:11632921-11632922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539219079	chr9:11632923-11632924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367573659	chr9:11632928-11632929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397718895	chr9:11632937-11632938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543587695	chr9:11632947-11632948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144635164	chr9:11632967-11632968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544301405	chr9:11632989-11632990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561979889	chr9:11633001-11633002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529877096	chr9:11633002-11633003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148197158	chr9:11633009-11633010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540300533	chr9:11633083-11633084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77366198	chr9:11633104-11633105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559578872	chr9:11633131-11633132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141134454	chr9:11633160-11633161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551595159	chr9:11633170-11633171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565085790	chr9:11633172-11633173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542758151	chr9:11633209-11633210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150712789	chr9:11633222-11633223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550717598	chr9:11633255-11633256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567117889	chr9:11633272-11633273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181427505	chr9:11633293-11633294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10123582	chr9:11633302-11633303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567143639	chr9:11633306-11633307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139217727	chr9:11633320-11633321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551365099	chr9:11633332-11633333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569128649	chr9:11633335-11633336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537911967	chr9:11633346-11633347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554625566	chr9:11633353-11633354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149533903	chr9:11633356-11633357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571588391	chr9:11633390-11633391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554850249	chr9:11633403-11633404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186518103	chr9:11633409-11633410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147204862	chr9:11633411-11633412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140457266	chr9:11633442-11633443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531127546	chr9:11633478-11633479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145458695	chr9:11633507-11633508	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
abnormal development	18461090	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
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
Cancer	20164920	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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11632000-11633000	Weak transcription	Fetal Brain Female	brain
2	chr9:11632200-11633200	Weak transcription	Fetal Brain Male	brain
3	chr9:11633000-11633200	Enhancers	Fetal Brain Female	brain
4	chr9:11633200-11633600	Enhancers	Fetal Brain Male	brain
5	chr9:11650200-11650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr9:11656000-11656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links