Variant report

Variant	esv3401932
Chromosome Location	chr12:32752125-32752790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375398595	chr12:32752126-32752127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552505922	chr12:32752138-32752139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540548158	chr12:32752143-32752144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7316616	chr12:32752150-32752151	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529079710	chr12:32752151-32752152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544355957	chr12:32752154-32752155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61926188	chr12:32752155-32752156	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61926189	chr12:32752164-32752165	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546300996	chr12:32752167-32752168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150684193	chr12:32752195-32752196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573294073	chr12:32752200-32752201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373528621	chr12:32752221-32752222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561420331	chr12:32752255-32752256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12826881	chr12:32752260-32752261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111330646	chr12:32752297-32752298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375550401	chr12:32752315-32752316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113772734	chr12:32752321-32752322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377511420	chr12:32752333-32752334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528496757	chr12:32752352-32752353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527648093	chr12:32752376-32752377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113973305	chr12:32752379-32752380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367959315	chr12:32752391-32752392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533316705	chr12:32752415-32752416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188129473	chr12:32752416-32752417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369127179	chr12:32752443-32752444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372635808	chr12:32752446-32752447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551875747	chr12:32752459-32752460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565390990	chr12:32752460-32752461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12828740	chr12:32752469-32752470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113000766	chr12:32752499-32752500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187847277	chr12:32752503-32752504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568387936	chr12:32752521-32752522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536924950	chr12:32752544-32752545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557153915	chr12:32752596-32752597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577125156	chr12:32752602-32752603	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193139066	chr12:32752616-32752617	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553505882	chr12:32752632-32752633	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538145875	chr12:32752639-32752640	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76225147	chr12:32752651-32752652	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10129039	chr12:32752658-32752659	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539551939	chr12:32752672-32752673	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185713653	chr12:32752673-32752674	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546564139	chr12:32752698-32752699	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61926190	chr12:32752711-32752712	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138727355	chr12:32752773-32752774	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
3	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
4	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:32722600-32754400	Weak transcription	Colonic Mucosa	Colon
8	chr12:32722600-32757600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
12	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:32723600-32756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
15	chr12:32728600-32757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:32731800-32753400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:32732400-32756600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
19	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
21	chr12:32735600-32754400	Weak transcription	Aorta	Aorta
22	chr12:32735800-32753800	Weak transcription	Placenta	Placenta
23	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
24	chr12:32736400-32754200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:32736400-32760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:32736600-32757000	Weak transcription	HepG2	liver
27	chr12:32736800-32757400	Weak transcription	Fetal Kidney	kidney
28	chr12:32737200-32754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:32739000-32757000	Weak transcription	Gastric	stomach
30	chr12:32739600-32754400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:32739600-32760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:32739800-32753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:32739800-32753600	Weak transcription	NH-A	brain
34	chr12:32739800-32756800	Weak transcription	NHDF-Ad	bronchial
35	chr12:32739800-32764600	Weak transcription	NHLF	lung
36	chr12:32740600-32756200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:32741200-32762000	Weak transcription	Right Ventricle	heart
38	chr12:32741600-32754000	Weak transcription	Brain Angular Gyrus	brain
39	chr12:32741600-32761200	Weak transcription	Brain Anterior Caudate	brain
40	chr12:32741800-32754000	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach
42	chr12:32742000-32764800	Weak transcription	Spleen	Spleen
43	chr12:32742400-32765600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:32743000-32754400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:32743800-32764600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:32744000-32754200	Weak transcription	HMEC	breast
47	chr12:32744200-32754200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
49	chr12:32744800-32753000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:32744800-32753400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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