Variant report

Variant	nsv819471
Chromosome Location	chr14:71051009-71051855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70825995..70826684-chr14:71051732..71052548,2	MCF-7	breast:
2	chr14:71051165..71053330-chr14:71053990..71056813,2	MCF-7	breast:
3	chr14:71048335..71050888-chr14:71050939..71052939,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MED6	hsa-miR-98-5p	chr14:71051481-71051475

Variant related genes	Relation type
ENSG00000133983	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572787135	chr14:71051018-71051019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539393122	chr14:71051029-71051030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557808301	chr14:71051030-71051031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576170948	chr14:71051039-71051040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543186521	chr14:71051041-71051042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71425208	chr14:71051069-71051070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561897245	chr14:71051083-71051084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs45523543	chr14:71051088-71051089	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559828492	chr14:71051095-71051096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57486211	chr14:71051102-71051103	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142780972	chr14:71051123-71051124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552122705	chr14:71051131-71051132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545662832	chr14:71051205-71051206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531673113	chr14:71051218-71051219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185978103	chr14:71051226-71051227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7150330	chr14:71051233-71051234	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552073970	chr14:71051254-71051255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28688661	chr14:71051279-71051280	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547972539	chr14:71051282-71051283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566350344	chr14:71051286-71051287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190744133	chr14:71051294-71051295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540509136	chr14:71051324-71051325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576133936	chr14:71051340-71051341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549575760	chr14:71051343-71051344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561744560	chr14:71051388-71051389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115054256	chr14:71051389-71051390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183311264	chr14:71051514-71051515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376069914	chr14:71051535-71051536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145634622	chr14:71051554-71051555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540819226	chr14:71051573-71051574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368127319	chr14:71051574-71051575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186558715	chr14:71051575-71051576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138180403	chr14:71051631-71051632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577478149	chr14:71051639-71051640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544932742	chr14:71051662-71051663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201027642	chr14:71051669-71051670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564139102	chr14:71051694-71051695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78033074	chr14:71051747-71051748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191004510	chr14:71051806-71051807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561995483	chr14:71051811-71051812	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71029000-71056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:71029000-71058800	Weak transcription	Esophagus	oesophagus
3	chr14:71029000-71066000	Weak transcription	Small Intestine	intestine
4	chr14:71030800-71059000	Weak transcription	Right Ventricle	heart
5	chr14:71030800-71061200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:71031000-71051600	Weak transcription	Psoas Muscle	Psoas
7	chr14:71031000-71059000	Weak transcription	Lung	lung
8	chr14:71031200-71051600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:71031200-71052000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:71032600-71061000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:71032800-71051200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:71032800-71057000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:71034800-71051200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:71034800-71061200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:71035000-71053400	Weak transcription	Pancreas	Pancrea
16	chr14:71035000-71059000	Weak transcription	Spleen	Spleen
17	chr14:71036800-71059800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:71037000-71059000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:71042000-71066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:71043600-71060400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:71043600-71063400	Strong transcription	Primary B cells from cord blood	blood
22	chr14:71044400-71063600	Strong transcription	Primary T cells from cord blood	blood
23	chr14:71044600-71063400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:71045000-71052400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:71045000-71063400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:71045000-71064200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:71045200-71063400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:71045200-71063600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:71045200-71063800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:71045200-71064400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:71045400-71052200	Strong transcription	Brain Germinal Matrix	brain
32	chr14:71045400-71063000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:71045400-71063200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:71045400-71063400	Strong transcription	Brain Anterior Caudate	brain
35	chr14:71045400-71063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:71045400-71063800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr14:71045400-71064600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr14:71045600-71055200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:71045600-71063800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:71045600-71064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:71045600-71064600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:71045800-71057200	Strong transcription	Fetal Muscle Leg	muscle
43	chr14:71045800-71063400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:71045800-71063400	Strong transcription	Fetal Thymus	thymus
45	chr14:71045800-71063600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:71046200-71054800	Strong transcription	A549	lung
47	chr14:71046200-71064400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:71046400-71063400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:71046400-71063400	Strong transcription	Placenta	Placenta
50	chr14:71046400-71064800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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