Variant report

Variant	esv3327170
Chromosome Location	chr12:119511269-119515867
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	chr12:119505058..119507410-chr12:119509441..119511568,2	K562	blood:

Extended variants
information (count: 217 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34513652	chr12:119511288-119511289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183923134	chr12:119511359-119511360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575488149	chr12:119511435-119511436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536023380	chr12:119511442-119511443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530243525	chr12:119511447-119511448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186752383	chr12:119511472-119511473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191174744	chr12:119511485-119511486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532567986	chr12:119511532-119511533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140764776	chr12:119511561-119511562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566070020	chr12:119511577-119511578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534943319	chr12:119511585-119511586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554743876	chr12:119511586-119511587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568286622	chr12:119511592-119511593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536762463	chr12:119511597-119511598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375799292	chr12:119511599-119511600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557052796	chr12:119511611-119511612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375973905	chr12:119511612-119511613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114962397	chr12:119511622-119511623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555473470	chr12:119511629-119511630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572195876	chr12:119511630-119511631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552964927	chr12:119511725-119511726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374686400	chr12:119511775-119511776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73408042	chr12:119511853-119511854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201965090	chr12:119511888-119511889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561883590	chr12:119511902-119511903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35197180	chr12:119511906-119511907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66912010	chr12:119511907-119511908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577079949	chr12:119511931-119511932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544057055	chr12:119511972-119511973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144729718	chr12:119511996-119511997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532488930	chr12:119512008-119512009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529568738	chr12:119512012-119512013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535158661	chr12:119512013-119512014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74618204	chr12:119512020-119512021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12369571	chr12:119512047-119512048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531433903	chr12:119512064-119512065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528778753	chr12:119512099-119512100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542031847	chr12:119512100-119512101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561806865	chr12:119512111-119512112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548439815	chr12:119512118-119512119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568397766	chr12:119512165-119512166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73211868	chr12:119512172-119512173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190219999	chr12:119512233-119512234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181929333	chr12:119512277-119512278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547424855	chr12:119512302-119512303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185353309	chr12:119512334-119512335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553026311	chr12:119512355-119512356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572846035	chr12:119512380-119512381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80271035	chr12:119512384-119512385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117860344	chr12:119512408-119512409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119506600-119513400	Weak transcription	Fetal Brain Male	brain
2	chr12:119507600-119513200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:119510000-119519800	Weak transcription	Fetal Brain Female	brain
4	chr12:119510600-119513200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:119510800-119511800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:119510800-119513200	Weak transcription	Pancreas	Pancrea
7	chr12:119513200-119513800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:119513200-119513800	ZNF genes & repeats	Pancreas	Pancrea
9	chr12:119513200-119514000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr12:119513200-119514000	ZNF genes & repeats	Fetal Kidney	kidney
11	chr12:119513400-119513800	ZNF genes & repeats	Fetal Brain Male	brain
12	chr12:119513800-119519200	Weak transcription	Fetal Brain Male	brain
13	chr12:119513800-119519800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:119513800-119523400	Weak transcription	Pancreas	Pancrea
15	chr12:119514000-119518400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:119514600-119515000	Enhancers	Fetal Heart	heart
17	chr12:119515000-119515800	Weak transcription	Fetal Heart	heart
18	chr12:119515600-119517400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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