Variant report

Variant	esv3420816
Chromosome Location	chr12:40741945-40742520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111873046	chr12:40742004-40742005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs66513412	chr12:40742005-40742006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569335632	chr12:40742006-40742007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34429371	chr12:40742015-40742016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372789611	chr12:40742017-40742018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559054256	chr12:40742037-40742038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1365766	chr12:40742073-40742074	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374438010	chr12:40742153-40742154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200824411	chr12:40742166-40742167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201915688	chr12:40742180-40742181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199967855	chr12:40742181-40742182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200952223	chr12:40742189-40742190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201758786	chr12:40742219-40742220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199567707	chr12:40742236-40742237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10878405	chr12:40742254-40742255	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs201513336	chr12:40742267-40742268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12423862	chr12:40742286-40742287	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563151766	chr12:40742328-40742329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72546332	chr12:40742341-40742342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370893052	chr12:40742350-40742351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199493663	chr12:40742357-40742358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199493662	chr12:40742359-40742360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375267837	chr12:40742361-40742362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376674750	chr12:40742362-40742363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11176143	chr12:40742363-40742364	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534638081	chr12:40742424-40742425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549303363	chr12:40742514-40742515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:40674400-40760400	Weak transcription	Lung	lung
4	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40712000-40743400	Weak transcription	Aorta	Aorta
7	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
9	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:40724600-40745400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:40724800-40751000	Weak transcription	Brain Anterior Caudate	brain
12	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
13	chr12:40726200-40766600	Weak transcription	A549	lung
14	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:40729800-40756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:40730000-40745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:40730000-40747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
19	chr12:40730400-40745400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:40732000-40745800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:40732000-40757200	Weak transcription	Right Ventricle	heart
22	chr12:40732200-40743000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:40733200-40757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:40733400-40745600	Weak transcription	Adipose Nuclei	Adipose
26	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:40734600-40754200	Weak transcription	Esophagus	oesophagus
28	chr12:40735400-40745400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:40735600-40747000	Weak transcription	Brain Angular Gyrus	brain
30	chr12:40737000-40742800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:40737000-40743600	Weak transcription	Ovary	ovary
32	chr12:40737000-40751600	Weak transcription	Left Ventricle	heart
33	chr12:40737200-40754000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:40740400-40744000	Strong transcription	Liver	Liver
35	chr12:40740400-40745600	Strong transcription	Primary B cells from cord blood	blood
36	chr12:40741000-40743400	Weak transcription	Primary B cells from peripheral blood	blood

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