Variant report

Variant	esv2432211
Chromosome Location	chr12:40751801-40753416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574229155	chr12:40751801-40751802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541370853	chr12:40751808-40751809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77668961	chr12:40751815-40751816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556611746	chr12:40751865-40751866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578144907	chr12:40751876-40751877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17466556	chr12:40751880-40751881	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545470900	chr12:40751896-40751897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76454537	chr12:40751905-40751906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10784528	chr12:40751979-40751980	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531320228	chr12:40751989-40751990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542984860	chr12:40752000-40752001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115139804	chr12:40752022-40752023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553764683	chr12:40752035-40752036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529143991	chr12:40752048-40752049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116675217	chr12:40752079-40752080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78647436	chr12:40752086-40752087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114335196	chr12:40752090-40752091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367602098	chr12:40752094-40752095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75000558	chr12:40752105-40752106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533015974	chr12:40752112-40752113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117083757	chr12:40752146-40752147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570138877	chr12:40752176-40752177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370775363	chr12:40752180-40752181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537546067	chr12:40752200-40752201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555758901	chr12:40752267-40752268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146922134	chr12:40752301-40752302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374431157	chr12:40752317-40752318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567594244	chr12:40752322-40752323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180846124	chr12:40752359-40752360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564143116	chr12:40752377-40752378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553418447	chr12:40752497-40752498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199777242	chr12:40752538-40752539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200581167	chr12:40752546-40752547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186077893	chr12:40752555-40752556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10784532	chr12:40752603-40752604	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113263878	chr12:40752620-40752621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190799291	chr12:40752728-40752729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535106290	chr12:40752729-40752730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145580704	chr12:40752821-40752822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60866417	chr12:40752822-40752823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72063715	chr12:40752823-40752824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398055495	chr12:40752834-40752835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17520564	chr12:40752835-40752836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561712243	chr12:40752837-40752838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183351954	chr12:40752877-40752878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79836766	chr12:40752989-40752990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559353409	chr12:40753006-40753007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79074615	chr12:40753013-40753014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370227184	chr12:40753021-40753022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs137930580	chr12:40753025-40753026	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40674400-40760400	Weak transcription	Lung	lung
3	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
7	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
9	chr12:40726200-40766600	Weak transcription	A549	lung
10	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:40729800-40756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
13	chr12:40732000-40757200	Weak transcription	Right Ventricle	heart
14	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:40733200-40757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:40734600-40754200	Weak transcription	Esophagus	oesophagus
18	chr12:40737200-40754000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:40744400-40754200	Weak transcription	Aorta	Aorta
20	chr12:40746000-40760600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:40746200-40754200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:40746200-40757200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:40746200-40760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:40746200-40760400	Weak transcription	Ovary	ovary
25	chr12:40747200-40759000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:40747200-40762400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:40748000-40754200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:40750800-40752400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:40751000-40752400	Strong transcription	Adipose Nuclei	Adipose
32	chr12:40751400-40754000	Weak transcription	Primary B cells from cord blood	blood
33	chr12:40751400-40762600	Strong transcription	Liver	Liver
34	chr12:40751600-40752000	Strong transcription	Left Ventricle	heart
35	chr12:40751800-40763600	Weak transcription	Brain Anterior Caudate	brain
36	chr12:40752000-40758000	Weak transcription	Left Ventricle	heart
37	chr12:40752400-40753800	Weak transcription	Adipose Nuclei	Adipose
38	chr12:40752400-40758800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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