Variant report

Variant	nsv584324
Chromosome Location	chr2:212766614-212773932
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	chr2:212770483..212772288-chr2:212787078..212789337,2	MCF-7	breast:
2	chr2:212762927..212764849-chr2:212767314..212769070,2	MCF-7	breast:

Extended variants
information (count: 251 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9653337	chr2:212766614-212766615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569451801	chr2:212766621-212766622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16847178	chr2:212766642-212766643	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183225412	chr2:212766661-212766662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568539995	chr2:212766684-212766685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202143857	chr2:212766748-212766749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187915583	chr2:212766750-212766751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191216630	chr2:212766751-212766752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200580474	chr2:212766759-212766760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148698110	chr2:212766772-212766773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563631180	chr2:212766891-212766892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539351806	chr2:212766938-212766939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377222556	chr2:212766939-212766940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575944189	chr2:212766942-212766943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370496702	chr2:212766967-212766968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183718957	chr2:212766983-212766984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535962633	chr2:212767014-212767015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77164643	chr2:212767063-212767064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72933733	chr2:212767073-212767074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187850135	chr2:212767105-212767106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548976944	chr2:212767121-212767122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563921851	chr2:212767137-212767138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532990572	chr2:212767215-212767216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73073348	chr2:212767230-212767231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73073349	chr2:212767364-212767365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374463408	chr2:212767379-212767380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545965030	chr2:212767425-212767426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34675688	chr2:212767449-212767450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556812213	chr2:212767470-212767471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73073350	chr2:212767480-212767481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568684998	chr2:212767511-212767512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534018812	chr2:212767556-212767557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370098948	chr2:212767566-212767567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547894917	chr2:212767628-212767629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146255295	chr2:212767669-212767670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73073353	chr2:212767670-212767671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192933221	chr2:212767701-212767702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569588255	chr2:212767707-212767708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139315430	chr2:212767725-212767726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555128777	chr2:212767728-212767729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75556861	chr2:212767767-212767768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540766324	chr2:212767784-212767785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557874648	chr2:212767795-212767796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143647646	chr2:212767796-212767797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543359299	chr2:212767821-212767822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146823610	chr2:212767832-212767833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368131500	chr2:212767844-212767845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532006801	chr2:212767875-212767876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142169886	chr2:212767880-212767881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372068690	chr2:212767881-212767882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212765200-212768800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:212765400-212766800	Enhancers	Fetal Heart	heart
3	chr2:212765600-212771400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:212766400-212766800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:212766400-212768000	Weak transcription	Brain Germinal Matrix	brain
6	chr2:212766400-212771600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:212766800-212768800	Weak transcription	Fetal Heart	heart
8	chr2:212768000-212769800	Enhancers	Brain Germinal Matrix	brain
9	chr2:212768600-212769000	Enhancers	Brain Hippocampus Middle	brain
10	chr2:212768800-212769200	Enhancers	Brain Angular Gyrus	brain
11	chr2:212768800-212769200	Enhancers	Fetal Heart	heart
12	chr2:212769200-212769400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:212769200-212772000	Weak transcription	Fetal Heart	heart
14	chr2:212769400-212769800	Enhancers	Brain Angular Gyrus	brain
15	chr2:212771400-212771800	Enhancers	Brain Substantia Nigra	brain
16	chr2:212771600-212771800	Enhancers	Brain Anterior Caudate	brain
17	chr2:212771600-212772200	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:212772000-212772600	Enhancers	Fetal Heart	heart
19	chr2:212772600-212774200	Weak transcription	Fetal Heart	heart

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