Variant report

Variant	esv14715
Chromosome Location	chr12:75112236-75115472
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	chr12:75106983..75109185-chr12:75115008..75117745,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544005769	chr12:75112290-75112291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138980522	chr12:75112323-75112324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10748263	chr12:75112388-75112389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540029504	chr12:75112407-75112408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113283663	chr12:75112416-75112417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189388539	chr12:75112437-75112438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181702418	chr12:75112456-75112457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76397258	chr12:75112478-75112479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10748264	chr12:75112479-75112480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186768203	chr12:75112492-75112493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11180183	chr12:75112493-75112494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191263606	chr12:75112509-75112510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374627689	chr12:75112515-75112516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368633057	chr12:75112526-75112527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557986152	chr12:75112616-75112617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150838614	chr12:75112650-75112651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11180184	chr12:75112680-75112681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372020613	chr12:75112770-75112771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78253791	chr12:75112851-75112852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117596560	chr12:75112880-75112881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139003768	chr12:75112924-75112925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183199829	chr12:75112977-75112978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185311191	chr12:75112992-75112993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189966888	chr12:75112994-75112995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564050358	chr12:75113018-75113019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533078469	chr12:75113026-75113027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149871813	chr12:75113028-75113029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531005114	chr12:75113037-75113038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79457808	chr12:75113069-75113070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369813558	chr12:75113083-75113084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183323086	chr12:75113101-75113102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550811857	chr12:75113135-75113136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565602682	chr12:75113248-75113249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534529842	chr12:75113250-75113251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371706656	chr12:75113251-75113252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12831123	chr12:75113257-75113258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10879829	chr12:75113264-75113265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12831140	chr12:75113274-75113275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537591846	chr12:75113275-75113276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557171998	chr12:75113286-75113287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574085622	chr12:75113315-75113316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12831301	chr12:75113323-75113324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543004745	chr12:75113329-75113330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546817800	chr12:75113337-75113338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187741935	chr12:75113344-75113345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193119336	chr12:75113381-75113382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183465789	chr12:75113418-75113419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7316173	chr12:75113419-75113420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs199712968	chr12:75113435-75113436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143969214	chr12:75113466-75113467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75110800-75116600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:75115000-75116800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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