Variant report

Variant	nsv975631
Chromosome Location	chr12:50869725-50873862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location
1	LARP4	hsa-miR-1	chr12:50872764-50872785
2	LARP4	hsa-miR-1	chr12:50872778-50872784
3	LARP4	hsa-miR-30a-5p	chr12:50870831-50870852
4	LARP4	hsa-miR-30a-5p	chr12:50870845-50870852

Extended variants
information (count: 110 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190758426	chr12:50869732-50869733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540597091	chr12:50869733-50869734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372240308	chr12:50869780-50869781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560319416	chr12:50869815-50869816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538998964	chr12:50869852-50869853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149999313	chr12:50869859-50869860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116211061	chr12:50869874-50869875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569394092	chr12:50869875-50869876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552423330	chr12:50869880-50869881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545748941	chr12:50869917-50869918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1132935	chr12:50869919-50869920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1132936	chr12:50869920-50869921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1132937	chr12:50869925-50869926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531780240	chr12:50869932-50869933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183039128	chr12:50869983-50869984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572814917	chr12:50870013-50870014	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188060749	chr12:50870087-50870088	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540305579	chr12:50870112-50870113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4491331	chr12:50870145-50870146	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576014905	chr12:50870185-50870186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533687777	chr12:50870247-50870248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150247290	chr12:50870280-50870281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575471495	chr12:50870283-50870284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138912344	chr12:50870287-50870288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539445479	chr12:50870340-50870341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574972728	chr12:50870410-50870411	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4298982	chr12:50870429-50870430	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75496571	chr12:50870473-50870474	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199763758	chr12:50870474-50870475	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576444525	chr12:50870485-50870486	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542040110	chr12:50870546-50870547	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114592052	chr12:50870548-50870549	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116463412	chr12:50870655-50870656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55809308	chr12:50870704-50870705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575714369	chr12:50870721-50870722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540333582	chr12:50870730-50870731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192342082	chr12:50870739-50870740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562881835	chr12:50870755-50870756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533669849	chr12:50870778-50870779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183652263	chr12:50870805-50870806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545834458	chr12:50870824-50870825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562841240	chr12:50870869-50870870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531910579	chr12:50870895-50870896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115379191	chr12:50871015-50871016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149429379	chr12:50871078-50871079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374252294	chr12:50871079-50871080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12297492	chr12:50871123-50871124	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139657568	chr12:50871149-50871150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570539509	chr12:50871166-50871167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138263835	chr12:50871199-50871200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:50825800-50873000	Strong transcription	Liver	Liver
8	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
9	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:50836600-50870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:50839000-50869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:50844400-50872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:50846200-50873000	Strong transcription	Adipose Nuclei	Adipose
16	chr12:50846800-50872000	Weak transcription	Fetal Heart	heart
17	chr12:50849200-50878000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:50850000-50871600	Weak transcription	Small Intestine	intestine
19	chr12:50851200-50870800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:50851800-50872600	Strong transcription	Dnd41	blood
21	chr12:50852200-50871000	Strong transcription	Fetal Thymus	thymus
22	chr12:50852400-50872200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:50852400-50872600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:50852600-50873000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:50853000-50870800	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:50853000-50871400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:50853800-50871400	Strong transcription	Osteobl	bone
28	chr12:50853800-50872600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:50854200-50873000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:50854800-50869800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:50855000-50870800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:50856200-50872200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:50856200-50872400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:50857600-50872400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:50857800-50872600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:50858000-50870800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:50858200-50871600	Weak transcription	Spleen	Spleen
38	chr12:50858400-50872400	Strong transcription	A549	lung
39	chr12:50859000-50872800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:50859600-50871800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:50859800-50869800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:50860000-50870200	Strong transcription	Fetal Stomach	stomach
43	chr12:50860200-50871000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:50860400-50872400	Strong transcription	Placenta	Placenta
45	chr12:50860600-50870600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:50860600-50871400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:50860600-50872600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:50860600-50872600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:50860800-50870800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:50861000-50870200	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links