Variant report

Variant	nsv516318
Chromosome Location	chr9:118340816-118348955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:118346081..118348622-chr9:118350631..118353525,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEC1-1	chr9:118342540-118342839	ucscGeneNc_uc004bju_1
2	lnc-DEC1-1	chr9:118348649-118348799	ucscGeneNc_uc004bju_1
3	lnc-DEC1-1	chr9:118347849-118347927	ucscGeneNc_uc004bju_1
4	lnc-DEC1-1	chr9:118348052-118348240	ucscGeneNc_uc004bju_1
5	lnc-DEC1-1	chr9:118345773-118345941	ucscGeneNc_uc004bju_1

No data

Extended variants
information (count: 61 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10759805	chr9:118342591-118342592	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545416833	chr9:118342595-118342596	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs117448041	chr9:118342600-118342601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs531214087	chr9:118342651-118342652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs117341800	chr9:118342666-118342667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs10759806	chr9:118342703-118342704	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187278600	chr9:118342733-118342734	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs80114138	chr9:118342769-118342770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs141996012	chr9:118342786-118342787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs562156027	chr9:118344013-118344014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2418378	chr9:118344110-118344111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144332784	chr9:118344120-118344121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2418379	chr9:118344131-118344132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2418380	chr9:118344143-118344144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2418381	chr9:118344163-118344164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114443753	chr9:118344170-118344171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2418382	chr9:118344184-118344185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531635955	chr9:118344190-118344191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201029434	chr9:118344202-118344203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2418383	chr9:118344206-118344207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550133636	chr9:118344220-118344221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10982826	chr9:118344223-118344224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2418384	chr9:118344235-118344236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112084094	chr9:118344255-118344256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570623921	chr9:118344256-118344257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539141846	chr9:118344317-118344318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74827849	chr9:118344333-118344334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184609441	chr9:118344352-118344353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575803479	chr9:118344364-118344365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2900603	chr9:118344372-118344373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs62575261	chr9:118344394-118344395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs574047028	chr9:118344400-118344401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143031895	chr9:118345817-118345818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs117930614	chr9:118345834-118345835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs527756713	chr9:118345855-118345856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs374872421	chr9:118345875-118345876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs12551496	chr9:118345899-118345900	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs77546061	chr9:118345907-118345908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs539753090	chr9:118345925-118345926	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113047360	chr9:118347866-118347867	Inactive region	lncRNA	n/a	Overlapped CNVs	mRNA abundance
41	rs10759807	chr9:118347899-118347900	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192559617	chr9:118347915-118347916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs553279881	chr9:118347927-118347928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs185035806	chr9:118348054-118348055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs563543779	chr9:118348055-118348056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs529243234	chr9:118348090-118348091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs542652819	chr9:118348111-118348112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs10982830	chr9:118348134-118348135	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs79786553	chr9:118348136-118348137	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs552033602	chr9:118348137-118348138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118344000-118344400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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