Variant report

Variant	esv3445020
Chromosome Location	chr2:212636757-212638730
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	chr2:212630495..212633352-chr2:212634766..212636959,3	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180780387	chr2:212636776-212636777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536083898	chr2:212636782-212636783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10432444	chr2:212636818-212636819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144354223	chr2:212636854-212636855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34602725	chr2:212636867-212636868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566587495	chr2:212636898-212636899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10432445	chr2:212636915-212636916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548078363	chr2:212636932-212636933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199538498	chr2:212636964-212636965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578239396	chr2:212636969-212636970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544143230	chr2:212636983-212636984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542754242	chr2:212637094-212637095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562639824	chr2:212637130-212637131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568382343	chr2:212637178-212637179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35623699	chr2:212637275-212637276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559794820	chr2:212637304-212637305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371373950	chr2:212637313-212637314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73069331	chr2:212637319-212637320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551324118	chr2:212637320-212637321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35870876	chr2:212637345-212637346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530690321	chr2:212637358-212637359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550827754	chr2:212637434-212637435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71350751	chr2:212637441-212637442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536435602	chr2:212637454-212637455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371600028	chr2:212637534-212637535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57287397	chr2:212637553-212637554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55805649	chr2:212637555-212637556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375823677	chr2:212637557-212637558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71054141	chr2:212637561-212637562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58106286	chr2:212637563-212637564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59930703	chr2:212637571-212637572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56131647	chr2:212637573-212637574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186394338	chr2:212637591-212637592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71350752	chr2:212637593-212637594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181683003	chr2:212637597-212637598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374729366	chr2:212637598-212637599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59053278	chr2:212637599-212637600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58014683	chr2:212637601-212637602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191659959	chr2:212637611-212637612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546524147	chr2:212637619-212637620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71054142	chr2:212637629-212637630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200843814	chr2:212637633-212637634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374841176	chr2:212637634-212637635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368830599	chr2:212637644-212637645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71350754	chr2:212637653-212637654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201763254	chr2:212637676-212637677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76283713	chr2:212637678-212637679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200491219	chr2:212637680-212637681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57818454	chr2:212637682-212637683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538747430	chr2:212637683-212637684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212633200-212638000	Weak transcription	Aorta	Aorta

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