Variant report

Variant	nsv584423
Chromosome Location	chr2:213367273-213370734
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	chr2:213370671..213373168-chr2:213375734..213377389,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAG16-10	chr2:213368289-213368358	l_2023_chr2:213368288-213390223_testes

Extended variants
information (count: 139 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10178687	chr2:213367273-213367274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376793355	chr2:213367322-213367323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544078404	chr2:213367339-213367340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112519113	chr2:213367359-213367360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140225274	chr2:213367373-213367374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556802884	chr2:213367401-213367402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73069027	chr2:213367511-213367512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527407532	chr2:213367596-213367597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554112014	chr2:213367601-213367602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548732955	chr2:213367610-213367611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567442375	chr2:213367638-213367639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573621749	chr2:213367667-213367668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550048114	chr2:213367701-213367702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571493241	chr2:213367715-213367716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376013729	chr2:213367725-213367726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538992471	chr2:213367741-213367742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111423415	chr2:213367788-213367789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144165551	chr2:213367798-213367799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536756763	chr2:213367920-213367921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554800111	chr2:213367930-213367931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536206881	chr2:213367993-213367994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151003183	chr2:213368007-213368008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553343356	chr2:213368041-213368042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564354941	chr2:213368048-213368049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373810948	chr2:213368067-213368068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532493265	chr2:213368073-213368074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145576246	chr2:213368074-213368075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559192826	chr2:213368104-213368105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573198742	chr2:213368108-213368109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372380190	chr2:213368219-213368220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113725813	chr2:213368221-213368222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544311618	chr2:213368251-213368252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544577715	chr2:213368294-213368295	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs559733843	chr2:213368322-213368323	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs116033666	chr2:213368335-213368336	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs542688938	chr2:213368345-213368346	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs560868474	chr2:213368360-213368361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150130515	chr2:213368366-213368367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115323780	chr2:213368391-213368392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545483218	chr2:213368416-213368417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35927292	chr2:213368445-213368446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186874505	chr2:213368455-213368456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375557716	chr2:213368459-213368460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556798813	chr2:213368495-213368496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35593959	chr2:213368523-213368524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138219192	chr2:213368562-213368563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142482917	chr2:213368588-213368589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555043473	chr2:213368594-213368595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72262983	chr2:213368603-213368604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570090848	chr2:213368675-213368676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213366200-213368400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:213366400-213370000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:213367200-213367400	Enhancers	Fetal Heart	heart
4	chr2:213367200-213367600	Enhancers	Brain Substantia Nigra	brain
5	chr2:213367400-213367800	Weak transcription	Fetal Heart	heart
6	chr2:213367600-213367800	Enhancers	Left Ventricle	heart
7	chr2:213367800-213368800	Enhancers	Fetal Heart	heart
8	chr2:213367800-213372200	Weak transcription	Aorta	Aorta
9	chr2:213368400-213368800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:213370000-213370400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:213370400-213373800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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