Variant report

Variant	esv2643760
Chromosome Location	chr14:35400793-35402165
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	chr14:35342311..35345634-chr14:35398849..35401832,3	MCF-7	breast:
2	chr14:35347443..35349212-chr14:35398653..35401635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198604	chromatin interactions
ENSG00000258738	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543796875	chr14:35400801-35400802	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535453176	chr14:35400866-35400867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141052384	chr14:35400909-35400910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551095395	chr14:35400920-35400921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568954685	chr14:35400921-35400922	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150312647	chr14:35401050-35401051	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34189886	chr14:35401087-35401088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559675328	chr14:35401109-35401110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146454399	chr14:35401124-35401125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111819968	chr14:35401139-35401140	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566983912	chr14:35401152-35401153	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187364338	chr14:35401158-35401159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551349368	chr14:35401200-35401201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs111624054	chr14:35401241-35401242	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201264265	chr14:35401256-35401257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538544368	chr14:35401277-35401278	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533518757	chr14:35401331-35401332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549797109	chr14:35401346-35401347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144627191	chr14:35401388-35401389	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572269095	chr14:35401414-35401415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534779218	chr14:35401415-35401416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554811156	chr14:35401416-35401417	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574936922	chr14:35401421-35401422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9944134	chr14:35401492-35401493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs56756157	chr14:35401716-35401717	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369783372	chr14:35401717-35401718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372333619	chr14:35401718-35401719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs712309	chr14:35401767-35401768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563662137	chr14:35401822-35401823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs143614609	chr14:35401882-35401883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566956020	chr14:35401909-35401910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190612352	chr14:35401983-35401984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374366972	chr14:35402048-35402049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116515767	chr14:35402056-35402057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528792562	chr14:35402150-35402151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35381400-35412200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:35389600-35411400	Weak transcription	Aorta	Aorta
3	chr14:35390000-35412600	Weak transcription	Ovary	ovary
4	chr14:35393000-35404400	Weak transcription	Left Ventricle	heart
5	chr14:35394600-35424000	Weak transcription	Fetal Lung	lung
6	chr14:35396400-35425200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:35396600-35424800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:35397200-35412800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:35397800-35420600	Weak transcription	Thymus	Thymus
10	chr14:35398000-35408200	Weak transcription	Liver	Liver
11	chr14:35398200-35400800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:35398400-35401000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:35398400-35401200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr14:35398800-35410600	Weak transcription	Fetal Brain Male	brain
15	chr14:35399000-35412200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:35399200-35400800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr14:35399400-35400800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:35399400-35402200	Weak transcription	HepG2	liver
19	chr14:35399400-35406800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:35399600-35401000	Enhancers	HUVEC	blood vessel
21	chr14:35399600-35412200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:35399800-35400800	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:35399800-35400800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr14:35399800-35400800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr14:35399800-35400800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr14:35399800-35400800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:35399800-35400800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr14:35399800-35400800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr14:35399800-35400800	Enhancers	Adipose Nuclei	Adipose
30	chr14:35399800-35400800	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:35399800-35400800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr14:35399800-35400800	Enhancers	Small Intestine	intestine
33	chr14:35399800-35400800	Enhancers	Dnd41	blood
34	chr14:35399800-35400800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr14:35399800-35401400	Enhancers	Stomach Mucosa	stomach
36	chr14:35399800-35404400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:35400000-35400800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr14:35400000-35400800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:35400200-35401000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:35400200-35401400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr14:35400400-35400800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:35400400-35400800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:35400400-35400800	Enhancers	A549	lung
44	chr14:35400400-35400800	Flanking Active TSS	GM12878-XiMat	blood
45	chr14:35400400-35400800	Enhancers	Hela-S3	cervix
46	chr14:35400400-35400800	Enhancers	HSMM	muscle
47	chr14:35400400-35400800	Enhancers	Osteobl	bone
48	chr14:35400400-35401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:35400400-35401000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr14:35400400-35401000	Enhancers	NHDF-Ad	bronchial

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