Variant report

Variant	esv3347753
Chromosome Location	chr12:40668598-40668867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548991403	chr12:40668598-40668599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199911625	chr12:40668612-40668613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376756880	chr12:40668623-40668624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200529791	chr12:40668636-40668637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202166519	chr12:40668647-40668648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138717506	chr12:40668671-40668672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201131172	chr12:40668676-40668677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142717718	chr12:40668679-40668680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566811888	chr12:40668683-40668684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201593147	chr12:40668690-40668691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs281865042	chr12:40668701-40668702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55987538	chr12:40668709-40668710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371585650	chr12:40668725-40668726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200787476	chr12:40668728-40668729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200024343	chr12:40668759-40668760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202013032	chr12:40668773-40668774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201092456	chr12:40668801-40668802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200689140	chr12:40668829-40668830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569178016	chr12:40668833-40668834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72546317	chr12:40668834-40668835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182885006	chr12:40668854-40668855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17466030	chr12:40668861-40668862	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
2	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
3	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
4	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
8	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
9	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:40647600-40674000	Weak transcription	Lung	lung
11	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:40659400-40677800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:40659400-40678600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:40659400-40678600	Weak transcription	Ovary	ovary
15	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
16	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:40659600-40669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:40659600-40670000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:40659600-40670000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:40659600-40670000	Weak transcription	Liver	Liver
21	chr12:40659600-40677000	Weak transcription	A549	lung
22	chr12:40659600-40680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:40659600-40680200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
25	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
26	chr12:40660600-40671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:40661000-40683400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:40666400-40671400	Weak transcription	Primary B cells from cord blood	blood
31	chr12:40667400-40678400	Weak transcription	Fetal Kidney	kidney

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