Variant report

Variant	esv3450890
Chromosome Location	chr14:55536347-55536808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55516948..55521248-chr14:55532171..55537345,7	K562	blood:
2	chr14:55534010..55536962-chr14:55595288..55598259,2	MCF-7	breast:
3	chr14:55536769..55540247-chr14:55595569..55598545,3	MCF-7	breast:
4	chr14:55518413..55520075-chr14:55533737..55537163,3	MCF-7	breast:
5	chr14:55529631..55531786-chr14:55534351..55536997,3	MCF-7	breast:
6	chr14:55536490..55539101-chr14:55568903..55571706,2	K562	blood:

Variant related genes	Relation type
ENSG00000131981	chromatin interactions
ENSG00000168175	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17128145	chr14:55536406-55536407	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78860602	chr14:55536431-55536432	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189025864	chr14:55536434-55536435	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567103195	chr14:55536435-55536436	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149936422	chr14:55536518-55536519	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549432817	chr14:55536527-55536528	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34546072	chr14:55536541-55536542	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567616221	chr14:55536563-55536564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537855134	chr14:55536627-55536628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556185268	chr14:55536628-55536629	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571399948	chr14:55536641-55536642	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145749535	chr14:55536642-55536643	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377746902	chr14:55536688-55536689	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191939530	chr14:55536690-55536691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184276608	chr14:55536729-55536730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55519600-55538000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:55520200-55538400	Weak transcription	Fetal Kidney	kidney
3	chr14:55520400-55538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:55520600-55538000	Weak transcription	Psoas Muscle	Psoas
5	chr14:55520600-55538600	Weak transcription	Fetal Brain Male	brain
6	chr14:55522600-55536600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:55524400-55536600	Strong transcription	Osteobl	bone
8	chr14:55526400-55538000	Weak transcription	Small Intestine	intestine
9	chr14:55526600-55537600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:55526600-55538400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:55529400-55536800	Strong transcription	HSMM	muscle
12	chr14:55529400-55538400	Weak transcription	Fetal Heart	heart
13	chr14:55529800-55538000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:55530000-55538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:55530000-55538000	Weak transcription	Brain Angular Gyrus	brain
16	chr14:55530000-55538000	Weak transcription	Left Ventricle	heart
17	chr14:55530000-55538000	Weak transcription	Lung	lung
18	chr14:55530000-55538400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:55530000-55538400	Weak transcription	Pancreas	Pancrea
20	chr14:55530000-55538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:55530000-55538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:55530000-55538600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:55530000-55538600	Weak transcription	Ovary	ovary
24	chr14:55530000-55544200	Weak transcription	Right Atrium	heart
25	chr14:55530000-55544200	Weak transcription	Right Ventricle	heart
26	chr14:55530000-55554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:55530200-55538000	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:55530200-55538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:55530400-55538800	Weak transcription	Fetal Stomach	stomach
30	chr14:55530600-55538000	Weak transcription	Brain Anterior Caudate	brain
31	chr14:55530600-55538000	Weak transcription	Spleen	Spleen
32	chr14:55530600-55538200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:55530600-55538200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:55530600-55538200	Weak transcription	HSMMtube	muscle
35	chr14:55530600-55538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:55530600-55538600	Weak transcription	Fetal Brain Female	brain
37	chr14:55530600-55538600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:55530600-55538800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:55530600-55541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:55530800-55537400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:55530800-55538000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:55530800-55544200	Weak transcription	Colonic Mucosa	Colon
43	chr14:55531000-55539000	Weak transcription	Fetal Intestine Small	intestine
44	chr14:55531000-55539200	Weak transcription	Thymus	Thymus
45	chr14:55531000-55544200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:55531600-55541200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:55531800-55538000	Weak transcription	HMEC	breast
48	chr14:55531800-55538600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr14:55532400-55538000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:55532400-55538200	Weak transcription	NHLF	lung

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