Variant report

Variant	nsv519276
Chromosome Location	chr12:29210121-29226080
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	chr12:29219445..29221150-chr12:29222821..29224786,2	K562	blood:
2	chr12:29219445..29221150-chr12:29222821..29224786,2	K562	blood:

Extended variants
information (count: 299 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568446147	chr12:29217808-29217809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535507807	chr12:29217828-29217829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7966315	chr12:29217831-29217832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569488629	chr12:29217852-29217853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534379659	chr12:29217874-29217875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540136767	chr12:29217875-29217876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557886215	chr12:29217907-29217908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369507406	chr12:29217908-29217909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7979959	chr12:29217909-29217910	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535971828	chr12:29217970-29217971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533610904	chr12:29217977-29217978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555077801	chr12:29217982-29217983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573560347	chr12:29218071-29218072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543918808	chr12:29218106-29218107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188268391	chr12:29218110-29218111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554710019	chr12:29218120-29218121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577812987	chr12:29218240-29218241	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545309437	chr12:29218331-29218332	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs142406188	chr12:29218338-29218339	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs527516192	chr12:29218343-29218344	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528833646	chr12:29218354-29218355	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs1344854	chr12:29218373-29218374	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543738684	chr12:29218381-29218382	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562207918	chr12:29218407-29218408	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145941851	chr12:29218437-29218438	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547400100	chr12:29218438-29218439	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs369271785	chr12:29218478-29218479	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192291571	chr12:29218481-29218482	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs550657861	chr12:29218518-29218519	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs1344855	chr12:29218538-29218539	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183754282	chr12:29218579-29218580	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139794064	chr12:29218601-29218602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374457844	chr12:29218637-29218638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7955393	chr12:29218706-29218707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189259915	chr12:29218722-29218723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12302693	chr12:29218724-29218725	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573695820	chr12:29218730-29218731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117359268	chr12:29218731-29218732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555857474	chr12:29218738-29218739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144639478	chr12:29218782-29218783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118126819	chr12:29218806-29218807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371246732	chr12:29218818-29218819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560471890	chr12:29218834-29218835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572264182	chr12:29218860-29218861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542882174	chr12:29218876-29218877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561143948	chr12:29218928-29218929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73063776	chr12:29218999-29219000	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551077336	chr12:29219064-29219065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs374733969	chr12:29219095-29219096	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562707707	chr12:29219111-29219112	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29217800-29218200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr12:29217800-29219800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:29217800-29220600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:29217800-29220800	Enhancers	Brain Hippocampus Middle	brain
5	chr12:29218000-29218600	Enhancers	Brain Angular Gyrus	brain
6	chr12:29218000-29218800	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:29218000-29219000	Enhancers	Brain Anterior Caudate	brain
8	chr12:29218000-29219400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:29218000-29220600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:29218000-29221200	Enhancers	Brain Substantia Nigra	brain
11	chr12:29218200-29218400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:29218200-29218600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:29218200-29218800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:29218200-29219200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:29218200-29220200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:29218400-29219000	Enhancers	Brain Germinal Matrix	brain
17	chr12:29218600-29219000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:29218600-29219000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:29218600-29219600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:29218800-29219800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:29218800-29219800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:29219000-29219200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:29219000-29219400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:29219000-29219400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:29219000-29219400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:29219000-29219400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:29219000-29219400	Weak transcription	Brain Anterior Caudate	brain
28	chr12:29219000-29219400	Enhancers	NH-A	brain
29	chr12:29219000-29219400	Enhancers	NHDF-Ad	bronchial
30	chr12:29219000-29220000	Enhancers	HUVEC	blood vessel
31	chr12:29219000-29222400	Weak transcription	Brain Germinal Matrix	brain
32	chr12:29219200-29219400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr12:29219200-29219800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:29219200-29219800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:29219200-29219800	Enhancers	NHEK	skin
36	chr12:29219200-29220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:29219200-29221000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr12:29219400-29219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:29219400-29221000	Enhancers	Brain Anterior Caudate	brain
40	chr12:29219400-29222400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:29219400-29222800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:29219400-29224200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:29219800-29220000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:29219800-29220000	Enhancers	Brain Angular Gyrus	brain
45	chr12:29219800-29220200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:29219800-29220200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:29219800-29220800	Enhancers	Brain Cingulate Gyrus	brain
48	chr12:29219800-29223800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:29220000-29222600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:29220200-29220600	Enhancers	Primary neutrophils fromperipheralblood	blood

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