Variant report

Variant	esv3431886
Chromosome Location	chr9:118064781-118068179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 64 )

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	rs556738396	chr9:118064864-118064865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190213946	chr9:118064874-118064875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576850882	chr9:118064882-118064883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10982662	chr9:118064892-118064893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555745693	chr9:118064908-118064909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572686264	chr9:118064929-118064930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138198223	chr9:118064974-118064975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539231517	chr9:118064985-118064986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182348889	chr9:118064996-118064997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149593700	chr9:118065080-118065081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543103615	chr9:118065099-118065100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186042443	chr9:118065142-118065143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573253570	chr9:118065157-118065158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542232218	chr9:118065165-118065166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188885095	chr9:118065202-118065203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540069594	chr9:118065206-118065207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558382452	chr9:118065208-118065209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181255832	chr9:118065216-118065217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551421190	chr9:118065223-118065224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34295367	chr9:118065228-118065229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185364597	chr9:118065240-118065241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201843975	chr9:118065268-118065269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558913196	chr9:118065273-118065274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530775660	chr9:118065333-118065334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34666877	chr9:118065343-118065344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72315519	chr9:118065344-118065345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550253137	chr9:118065351-118065352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191041789	chr9:118065388-118065389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144211085	chr9:118065562-118065563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562117327	chr9:118065622-118065623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180719728	chr9:118065666-118065667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375326412	chr9:118065707-118065708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565964829	chr9:118065713-118065714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535308304	chr9:118065760-118065761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148718911	chr9:118065778-118065779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186049847	chr9:118065803-118065804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577811916	chr9:118065826-118065827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537249080	chr9:118065912-118065913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573924278	chr9:118065925-118065926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556597524	chr9:118065967-118065968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541333090	chr9:118066006-118066007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573425187	chr9:118066076-118066077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542386829	chr9:118066099-118066100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545922734	chr9:118066115-118066116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141800774	chr9:118066189-118066190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79780878	chr9:118066202-118066203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139451243	chr9:118066203-118066204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565039773	chr9:118066212-118066213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530685663	chr9:118066249-118066250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34677964	chr9:118066255-118066256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118060000-118073200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:118064800-118065200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr9:118067200-118067400	Enhancers	NHEK	skin
4	chr9:118067200-118068400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:118067400-118068200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:118067400-118068200	Flanking Active TSS	NHEK	skin
7	chr9:118067400-118068400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:118067400-118068400	Enhancers	HMEC	breast
9	chr9:118067400-118068600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:118068000-118068400	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links