Variant report

Variant	esv1851182
Chromosome Location	chr2:212768779-212774751
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	chr2:212762927..212764849-chr2:212767314..212769070,2	MCF-7	breast:
2	chr2:212770483..212772288-chr2:212787078..212789337,2	MCF-7	breast:

Extended variants
information (count: 200 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs2043888	chr2:212768779-212768780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527983512	chr2:212768780-212768781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531396181	chr2:212768804-212768805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189583440	chr2:212768820-212768821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149992872	chr2:212768893-212768894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180768628	chr2:212768907-212768908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78889429	chr2:212768937-212768938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185369360	chr2:212768955-212768956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569712022	chr2:212768959-212768960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370984491	chr2:212768995-212768996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551303314	chr2:212769020-212769021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565920032	chr2:212769095-212769096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534633363	chr2:212769104-212769105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551519455	chr2:212769107-212769108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571385830	chr2:212769115-212769116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541780536	chr2:212769119-212769120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145397419	chr2:212769172-212769173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191009575	chr2:212769186-212769187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573668283	chr2:212769244-212769245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536211498	chr2:212769358-212769359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73073354	chr2:212769377-212769378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572668283	chr2:212769399-212769400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541397343	chr2:212769444-212769445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200737107	chr2:212769492-212769493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564682197	chr2:212769525-212769526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77412266	chr2:212769527-212769528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73073357	chr2:212769544-212769545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181372754	chr2:212769587-212769588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563665161	chr2:212769598-212769599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374631856	chr2:212769602-212769603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370561862	chr2:212769615-212769616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563401858	chr2:212769622-212769623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529349545	chr2:212769637-212769638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548937923	chr2:212769644-212769645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79068836	chr2:212769676-212769677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528369985	chr2:212769699-212769700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77680578	chr2:212769715-212769716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563867691	chr2:212769745-212769746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571414848	chr2:212769783-212769784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13389940	chr2:212769813-212769814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550801384	chr2:212769831-212769832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573197804	chr2:212769884-212769885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567344737	chr2:212769889-212769890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115935952	chr2:212769901-212769902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552920257	chr2:212769913-212769914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149231695	chr2:212769922-212769923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186519600	chr2:212769933-212769934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558208260	chr2:212769991-212769992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72933734	chr2:212770008-212770009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560959852	chr2:212770024-212770025	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212765200-212768800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:212765600-212771400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:212766400-212771600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:212766800-212768800	Weak transcription	Fetal Heart	heart
5	chr2:212768000-212769800	Enhancers	Brain Germinal Matrix	brain
6	chr2:212768600-212769000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:212768800-212769200	Enhancers	Brain Angular Gyrus	brain
8	chr2:212768800-212769200	Enhancers	Fetal Heart	heart
9	chr2:212769200-212769400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:212769200-212772000	Weak transcription	Fetal Heart	heart
11	chr2:212769400-212769800	Enhancers	Brain Angular Gyrus	brain
12	chr2:212771400-212771800	Enhancers	Brain Substantia Nigra	brain
13	chr2:212771600-212771800	Enhancers	Brain Anterior Caudate	brain
14	chr2:212771600-212772200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:212772000-212772600	Enhancers	Fetal Heart	heart
16	chr2:212772600-212774200	Weak transcription	Fetal Heart	heart
17	chr2:212774200-212774400	Enhancers	Fetal Heart	heart

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