Variant report

Variant	esv3500885
Chromosome Location	chr12:105191122-105195920
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	chr12:105184845..105186362-chr12:105189504..105191210,2	K562	blood:
2	chr12:105187897..105189481-chr12:105191929..105194027,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs536762756	chr12:105191130-105191131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186912700	chr12:105191139-105191140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191796392	chr12:105191312-105191313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75015936	chr12:105191313-105191314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75914873	chr12:105191322-105191323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138147862	chr12:105191352-105191353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570134928	chr12:105191385-105191386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116614896	chr12:105191398-105191399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184090781	chr12:105191492-105191493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189072235	chr12:105191607-105191608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372273825	chr12:105191627-105191628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144562796	chr12:105191632-105191633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2468342	chr12:105191650-105191651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557776204	chr12:105191726-105191727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554090054	chr12:105191785-105191786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191826330	chr12:105191793-105191794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182255527	chr12:105191794-105191795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112613483	chr12:105191798-105191799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556660092	chr12:105191849-105191850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573360300	chr12:105191861-105191862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542416038	chr12:105191864-105191865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559279385	chr12:105191886-105191887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35444688	chr12:105191911-105191912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372141157	chr12:105191923-105191924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79212825	chr12:105191931-105191932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544956526	chr12:105192053-105192054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572282008	chr12:105192095-105192096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186571208	chr12:105192107-105192108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144227512	chr12:105192145-105192146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550162906	chr12:105192194-105192195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372344855	chr12:105192210-105192211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148752474	chr12:105192220-105192221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77315890	chr12:105192222-105192223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557942090	chr12:105192265-105192266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377105431	chr12:105192280-105192281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566135286	chr12:105192289-105192290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191810288	chr12:105192325-105192326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547050610	chr12:105192374-105192375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373615303	chr12:105192426-105192427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551765146	chr12:105192468-105192469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35104593	chr12:105192577-105192578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147515843	chr12:105192636-105192637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2453170	chr12:105192655-105192656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11112197	chr12:105192725-105192726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183939629	chr12:105192726-105192727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535932762	chr12:105192814-105192815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553165815	chr12:105192865-105192866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368471664	chr12:105192918-105192919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572927970	chr12:105193008-105193009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545158035	chr12:105193009-105193010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105187400-105191800	Weak transcription	HSMMtube	muscle
2	chr12:105187400-105213600	Weak transcription	Pancreas	Pancrea
3	chr12:105189800-105193800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:105189800-105213400	Weak transcription	Aorta	Aorta
5	chr12:105190000-105194200	Weak transcription	Adipose Nuclei	Adipose
6	chr12:105190000-105202800	Weak transcription	Liver	Liver
7	chr12:105191000-105196200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:105193400-105194000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
9	chr12:105193800-105194800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:105194200-105194800	Enhancers	Adipose Nuclei	Adipose
11	chr12:105194800-105198800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:105195400-105196800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:105195600-105199000	Weak transcription	HSMMtube	muscle
14	chr12:105195800-105196600	Enhancers	HUVEC	blood vessel
15	chr12:105195800-105197000	Enhancers	Hela-S3	cervix

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