Variant report

Variant	nsv962520
Chromosome Location	chr2:209245277-209253106
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	chr2:209244985..209246550-chr2:209250823..209252697,2	MCF-7	breast:
2	chr2:209244985..209246550-chr2:209250823..209252697,2	MCF-7	breast:

Extended variants
information (count: 152 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544960490	chr2:209245279-209245280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554919503	chr2:209245285-209245286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565202264	chr2:209245292-209245293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534199011	chr2:209245294-209245295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6744738	chr2:209245352-209245353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs550366521	chr2:209245388-209245389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560611881	chr2:209245395-209245396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529733772	chr2:209245396-209245397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546333125	chr2:209245423-209245424	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12694111	chr2:209245431-209245432	Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185210623	chr2:209245459-209245460	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552558224	chr2:209245485-209245486	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569554120	chr2:209245504-209245505	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146167237	chr2:209245521-209245522	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555210195	chr2:209245550-209245551	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138939815	chr2:209245560-209245561	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534263898	chr2:209245569-209245570	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35418496	chr2:209245574-209245575	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149254329	chr2:209245590-209245591	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113769771	chr2:209245633-209245634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189667678	chr2:209245651-209245652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546202299	chr2:209245795-209245796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114610032	chr2:209245819-209245820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558334178	chr2:209245831-209245832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192800705	chr2:209245875-209245876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544143871	chr2:209246046-209246047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555444639	chr2:209246057-209246058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184437946	chr2:209246060-209246061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560742805	chr2:209246064-209246065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370877942	chr2:209246140-209246141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188298583	chr2:209246141-209246142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369644996	chr2:209246184-209246185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60719288	chr2:209246225-209246226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144431506	chr2:209246266-209246267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115561820	chr2:209246276-209246277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552152049	chr2:209246299-209246300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116710641	chr2:209246337-209246338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532033628	chr2:209246343-209246344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181819961	chr2:209246359-209246360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148395927	chr2:209246418-209246419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143543622	chr2:209246433-209246434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73983770	chr2:209246450-209246451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs147156456	chr2:209246490-209246491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544137952	chr2:209246526-209246527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186156934	chr2:209246528-209246529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539412916	chr2:209246554-209246555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556515077	chr2:209246639-209246640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549260427	chr2:209246679-209246680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576077548	chr2:209246732-209246733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544076204	chr2:209246767-209246768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209245200-209245600	Enhancers	Pancreas	Pancrea
2	chr2:209245400-209245600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:209245600-209249400	Weak transcription	Pancreas	Pancrea
4	chr2:209248800-209249000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:209251200-209251600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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