Variant report

Variant	nsv460080
Chromosome Location	chr2:213151230-213191389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
2	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
3	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
4	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
5	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:

Extended variants
information (count: 1564 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1564 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4673657	chr2:213151230-213151231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538576397	chr2:213151297-213151298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367666549	chr2:213151308-213151309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71054190	chr2:213151320-213151321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200822862	chr2:213151321-213151322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72945674	chr2:213151322-213151323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200926874	chr2:213151334-213151335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201439191	chr2:213151339-213151340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557693080	chr2:213151348-213151349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375751995	chr2:213151351-213151352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577505560	chr2:213151395-213151396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556673400	chr2:213151425-213151426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556506672	chr2:213151438-213151439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11686852	chr2:213151472-213151473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6717146	chr2:213151485-213151486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562185362	chr2:213151491-213151492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527739360	chr2:213151492-213151493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71054191	chr2:213151515-213151516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541446902	chr2:213151541-213151542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79468355	chr2:213151554-213151555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553123999	chr2:213151579-213151580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113159196	chr2:213151628-213151629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542386779	chr2:213151634-213151635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71350761	chr2:213151636-213151637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550029589	chr2:213151651-213151652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73066385	chr2:213151653-213151654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372021014	chr2:213151662-213151663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548742428	chr2:213151669-213151670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565444710	chr2:213151709-213151710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192641030	chr2:213151725-213151726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557513139	chr2:213151730-213151731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571199243	chr2:213151748-213151749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183510606	chr2:213151771-213151772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72945676	chr2:213151776-213151777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372711939	chr2:213151796-213151797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140874870	chr2:213151801-213151802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565128455	chr2:213151813-213151814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542444458	chr2:213151822-213151823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555957111	chr2:213151825-213151826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34007979	chr2:213151827-213151828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572613333	chr2:213151922-213151923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186662409	chr2:213152006-213152007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575448294	chr2:213152019-213152020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533347492	chr2:213152023-213152024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543419520	chr2:213152025-213152026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563625161	chr2:213152052-213152053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192553092	chr2:213152067-213152068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529108370	chr2:213152080-213152081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548802869	chr2:213152081-213152082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144613040	chr2:213152123-213152124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213148000-213155000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:213150000-213152400	Weak transcription	Fetal Heart	heart
3	chr2:213150200-213161600	Weak transcription	Aorta	Aorta
4	chr2:213152400-213153200	Enhancers	Fetal Heart	heart
5	chr2:213153000-213153200	ZNF genes & repeats	Pancreas	Pancrea
6	chr2:213153200-213153600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr2:213153200-213159400	Weak transcription	Pancreas	Pancrea
8	chr2:213155000-213155400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:213155200-213155400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr2:213159600-213159800	Enhancers	Brain Angular Gyrus	brain
11	chr2:213159600-213159800	Enhancers	Brain Substantia Nigra	brain
12	chr2:213159600-213159800	Enhancers	Pancreas	Pancrea
13	chr2:213159600-213160000	Enhancers	Brain Hippocampus Middle	brain
14	chr2:213159800-213161400	Weak transcription	Brain Angular Gyrus	brain
15	chr2:213160000-213164200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:213161400-213162200	Enhancers	Brain Angular Gyrus	brain
17	chr2:213161600-213161800	Enhancers	Aorta	Aorta
18	chr2:213164200-213164800	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:213164600-213165000	Enhancers	Brain Anterior Caudate	brain
20	chr2:213164800-213165200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:213168600-213168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:213171000-213172000	Enhancers	Adipose Nuclei	Adipose
24	chr2:213171000-213172400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:213175200-213175400	Enhancers	Fetal Heart	heart
26	chr2:213175400-213180200	Weak transcription	Fetal Heart	heart
27	chr2:213176400-213177000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
29	chr2:213180800-213181200	Enhancers	Brain Substantia Nigra	brain
30	chr2:213180800-213181400	Enhancers	Aorta	Aorta
31	chr2:213181000-213181200	Enhancers	Psoas Muscle	Psoas
32	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
34	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
35	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
36	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
37	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
38	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
39	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
40	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
41	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney

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