Variant report

Variant	nsv983838
Chromosome Location	chr14:68266009-68266809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182102371	chr14:68266020-68266021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373926084	chr14:68266040-68266041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113433313	chr14:68266084-68266085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111422943	chr14:68266099-68266100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7143377	chr14:68266157-68266158	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551919563	chr14:68266160-68266161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187577533	chr14:68266164-68266165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531553323	chr14:68266186-68266187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7143521	chr14:68266210-68266211	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191904819	chr14:68266218-68266219	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140073959	chr14:68266227-68266228	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547501400	chr14:68266231-68266232	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566075619	chr14:68266235-68266236	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539800168	chr14:68266241-68266242	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557913481	chr14:68266288-68266289	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576666690	chr14:68266291-68266292	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375914361	chr14:68266296-68266297	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537752296	chr14:68266386-68266387	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34957012	chr14:68266401-68266402	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200934278	chr14:68266402-68266403	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183816694	chr14:68266567-68266568	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555953193	chr14:68266583-68266584	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574309211	chr14:68266603-68266604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34755650	chr14:68266643-68266644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546411397	chr14:68266686-68266687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1810523	chr14:68266708-68266709	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs188358685	chr14:68266719-68266720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190450807	chr14:68266760-68266761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545779443	chr14:68266800-68266801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:68213800-68280600	Strong transcription	Liver	Liver
6	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
10	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
11	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:68226800-68280800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:68229200-68272800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:68229200-68281200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:68229800-68281000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:68230800-68280200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:68231600-68280800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:68232200-68279600	Strong transcription	Fetal Intestine Large	intestine
32	chr14:68232400-68267000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr14:68232600-68280000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:68232800-68276800	Strong transcription	Fetal Intestine Small	intestine
35	chr14:68232800-68280800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr14:68233800-68280800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:68233800-68280800	Strong transcription	Placenta	Placenta
38	chr14:68234200-68280200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:68234600-68278000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr14:68234600-68280200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:68237800-68277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:68252200-68280400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:68252600-68277800	Strong transcription	Left Ventricle	heart
44	chr14:68252800-68277800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr14:68253400-68267800	Weak transcription	K562	blood
46	chr14:68254600-68281000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:68255200-68276000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:68257600-68268800	Weak transcription	Psoas Muscle	Psoas
49	chr14:68258600-68266800	Strong transcription	Lung	lung
50	chr14:68259000-68266800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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