Variant report

Variant	nsv818684
Chromosome Location	chr9:9968038-9971050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546654383	chr9:9969609-9969610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183018405	chr9:9969628-9969629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532206710	chr9:9969639-9969640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114464789	chr9:9969671-9969672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188649585	chr9:9969698-9969699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77935221	chr9:9969715-9969716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548056209	chr9:9969737-9969738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115781727	chr9:9969740-9969741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533848859	chr9:9969748-9969749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192984013	chr9:9969750-9969751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59147123	chr9:9969799-9969800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539880116	chr9:9969851-9969852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183971201	chr9:9969873-9969874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568224372	chr9:9969882-9969883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7032996	chr9:9969896-9969897	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7033099	chr9:9969939-9969940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542470804	chr9:9969942-9969943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7860594	chr9:9969965-9969966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187636703	chr9:9969971-9969972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541770248	chr9:9969993-9969994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560145331	chr9:9969999-9970000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540044192	chr9:9970000-9970001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192560706	chr9:9970006-9970007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537092719	chr9:9970010-9970011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183481555	chr9:9970028-9970029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12338569	chr9:9970033-9970034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370222300	chr9:9970041-9970042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538419710	chr9:9970052-9970053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112858695	chr9:9970067-9970068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531514637	chr9:9970073-9970074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547944921	chr9:9970078-9970079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567933586	chr9:9970163-9970164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142104128	chr9:9970182-9970183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547297393	chr9:9970183-9970184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7860148	chr9:9970203-9970204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs539494979	chr9:9970243-9970244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556599124	chr9:9970264-9970265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150737932	chr9:9970278-9970279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535970556	chr9:9970287-9970288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200159478	chr9:9970291-9970292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572682843	chr9:9970299-9970300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370655498	chr9:9970306-9970307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541707007	chr9:9970311-9970312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7857112	chr9:9970319-9970320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576772772	chr9:9970325-9970326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7870418	chr9:9970351-9970352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188160054	chr9:9970374-9970375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531276072	chr9:9970387-9970388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547883206	chr9:9970398-9970399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561504138	chr9:9970399-9970400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
XY gonadal dysgenesis	20685758	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9969600-9970000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:9970000-9972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:9970600-9971000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links