Variant report

Variant	nsv527786
Chromosome Location	chr12:32761558-32771912
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	chr12:32767811..32770766-chr12:32773377..32776313,2	K562	blood:

Extended variants
information (count: 411 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4931642	chr12:32761558-32761559	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139275451	chr12:32761564-32761565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193157835	chr12:32761576-32761577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556351598	chr12:32761622-32761623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536890705	chr12:32761631-32761632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183326716	chr12:32761669-32761670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12315052	chr12:32761722-32761723	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537955722	chr12:32761761-32761762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557861148	chr12:32761768-32761769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10506097	chr12:32761783-32761784	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188334580	chr12:32761790-32761791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73083455	chr12:32761791-32761792	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148308342	chr12:32761849-32761850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554078311	chr12:32761911-32761912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553613605	chr12:32761913-32761914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192663843	chr12:32761914-32761915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562324241	chr12:32761951-32761952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571929078	chr12:32762027-32762028	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183898697	chr12:32762032-32762033	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374448810	chr12:32762043-32762044	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545119810	chr12:32762047-32762048	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56231715	chr12:32762067-32762068	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188242404	chr12:32762095-32762096	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139815510	chr12:32762123-32762124	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561655262	chr12:32762126-32762127	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371042564	chr12:32762136-32762137	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530314686	chr12:32762220-32762221	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78821954	chr12:32762242-32762243	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570286000	chr12:32762245-32762246	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115775948	chr12:32762250-32762251	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551513996	chr12:32762313-32762314	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571247374	chr12:32762320-32762321	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191254845	chr12:32762386-32762387	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12228250	chr12:32762401-32762402	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117586959	chr12:32762420-32762421	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536154337	chr12:32762439-32762440	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556009664	chr12:32762440-32762441	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555054424	chr12:32762468-32762469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs999840	chr12:32762492-32762493	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs543896422	chr12:32762553-32762554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74661119	chr12:32762585-32762586	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76817856	chr12:32762589-32762590	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368084238	chr12:32762629-32762630	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs5797483	chr12:32762630-32762631	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs370235968	chr12:32762634-32762635	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs113873132	chr12:32762635-32762636	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184915394	chr12:32762703-32762704	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs566362517	chr12:32762748-32762749	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565417349	chr12:32762751-32762752	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572444498	chr12:32762752-32762753	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
8	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
10	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
11	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
12	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
13	chr12:32739800-32764600	Weak transcription	NHLF	lung
14	chr12:32741200-32762000	Weak transcription	Right Ventricle	heart
15	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach
16	chr12:32742000-32764800	Weak transcription	Spleen	Spleen
17	chr12:32742400-32765600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:32743800-32764600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
20	chr12:32744800-32762000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:32744800-32765000	Weak transcription	Brain Substantia Nigra	brain
22	chr12:32745000-32764400	Weak transcription	Lung	lung
23	chr12:32749000-32764200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:32749000-32764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:32750000-32762200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:32750000-32765000	Strong transcription	Adipose Nuclei	Adipose
27	chr12:32750000-32770400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:32752000-32762000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:32753000-32774200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:32754200-32795200	Weak transcription	Primary B cells from cord blood	blood
31	chr12:32754600-32766800	Weak transcription	NH-A	brain
32	chr12:32754800-32764600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:32755000-32762000	Weak transcription	Left Ventricle	heart
34	chr12:32755000-32764800	Weak transcription	Colonic Mucosa	Colon
35	chr12:32755000-32775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:32755200-32762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:32755600-32764400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:32755600-32764600	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:32755600-32765200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:32756200-32789800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:32756800-32763200	Strong transcription	Fetal Intestine Large	intestine
43	chr12:32756800-32767400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:32757000-32783400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:32757200-32764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:32757400-32767400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:32757600-32767600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:32757600-32798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:32757800-32764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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