Variant report

Variant	esv3496997
Chromosome Location	chr12:60412332-60413513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564590434	chr12:60412358-60412359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10784020	chr12:60412378-60412379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540861253	chr12:60412394-60412395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560755870	chr12:60412447-60412448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377244925	chr12:60412448-60412449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370166000	chr12:60412483-60412484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529637286	chr12:60412503-60412504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549412909	chr12:60412521-60412522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568007473	chr12:60412550-60412551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201643711	chr12:60412580-60412581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10877385	chr12:60412581-60412582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201080722	chr12:60412583-60412584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550233340	chr12:60412598-60412599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570239870	chr12:60412600-60412601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377704867	chr12:60412614-60412615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539234665	chr12:60412620-60412621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552789601	chr12:60412641-60412642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566653256	chr12:60412644-60412645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371309625	chr12:60412668-60412669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535695129	chr12:60412680-60412681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555386310	chr12:60412712-60412713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575562587	chr12:60412718-60412719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191920134	chr12:60412768-60412769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558264363	chr12:60412808-60412809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71077603	chr12:60412832-60412833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578171597	chr12:60412836-60412837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532404998	chr12:60412860-60412861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398019812	chr12:60412888-60412889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371497870	chr12:60412889-60412890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376725354	chr12:60412890-60412891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540824333	chr12:60412923-60412924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201204110	chr12:60412925-60412926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182865162	chr12:60412949-60412950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538884607	chr12:60412967-60412968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528793234	chr12:60412968-60412969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548460351	chr12:60412982-60412983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370686933	chr12:60412987-60412988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202041438	chr12:60413034-60413035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201596881	chr12:60413040-60413041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114964029	chr12:60413044-60413045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200158925	chr12:60413058-60413059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377263108	chr12:60413129-60413130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529795162	chr12:60413167-60413168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73367172	chr12:60413177-60413178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148174119	chr12:60413190-60413191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187953535	chr12:60413194-60413195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563829613	chr12:60413222-60413223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142007189	chr12:60413270-60413271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193233864	chr12:60413295-60413296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10877386	chr12:60413349-60413350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60408800-60420600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:60413200-60414200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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