Variant report

Variant	nsv976298
Chromosome Location	chr14:71917066-71925965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71915843..71917991-chr14:71921566..71923548,2	MCF-7	breast:
2	chr14:71915843..71917991-chr14:71921566..71923548,2	MCF-7	breast:
3	chr14:71910831..71913161-chr14:71915505..71918179,2	MCF-7	breast:
4	chr14:71894769..71896723-chr14:71920391..71921906,2	MCF-7	breast:

Extended variants
information (count: 282 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528488878	chr14:71917083-71917084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184269336	chr14:71917164-71917165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540221378	chr14:71917176-71917177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112877716	chr14:71917267-71917268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529349613	chr14:71917285-71917286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565589860	chr14:71917324-71917325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139227438	chr14:71917376-71917377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550790202	chr14:71917484-71917485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559339962	chr14:71917549-71917550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569093944	chr14:71917575-71917576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540808057	chr14:71917586-71917587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114839801	chr14:71917610-71917611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552082102	chr14:71917647-71917648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530562267	chr14:71917653-71917654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570145472	chr14:71917680-71917681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554551164	chr14:71917715-71917716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531172841	chr14:71917747-71917748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112318213	chr14:71917770-71917771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549318784	chr14:71917781-71917782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529599812	chr14:71917785-71917786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188069866	chr14:71917787-71917788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549061889	chr14:71917823-71917824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144032504	chr14:71917855-71917856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201709786	chr14:71917867-71917868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192846295	chr14:71917868-71917869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80350246	chr14:71917986-71917987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538911480	chr14:71918000-71918001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567205395	chr14:71918019-71918020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557264479	chr14:71918077-71918078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146498552	chr14:71918163-71918164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141004089	chr14:71918183-71918184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183921732	chr14:71918297-71918298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113256756	chr14:71918312-71918313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80052274	chr14:71918349-71918350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372370795	chr14:71918370-71918371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189046150	chr14:71918414-71918415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35831373	chr14:71918421-71918422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143186497	chr14:71918472-71918473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78925074	chr14:71918480-71918481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373585563	chr14:71918530-71918531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74060352	chr14:71918546-71918547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545206783	chr14:71918550-71918551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181546264	chr14:71918568-71918569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116985791	chr14:71918631-71918632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140457650	chr14:71918661-71918662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370181546	chr14:71918719-71918720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571591355	chr14:71918762-71918763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117369089	chr14:71918791-71918792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546176662	chr14:71918792-71918793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370067589	chr14:71918884-71918885	Weak transcription Enhancers	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
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	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71900000-71927200	Weak transcription	Primary B cells from cord blood	blood
2	chr14:71905600-71919200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:71906400-71927000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:71907000-71918800	Weak transcription	HMEC	breast
5	chr14:71907000-71930000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:71907000-71930600	Weak transcription	HSMM	muscle
7	chr14:71907200-71921400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:71907400-71921400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:71908200-71935400	Weak transcription	Primary T cells from cord blood	blood
10	chr14:71911800-71918800	Weak transcription	Osteobl	bone
11	chr14:71911800-71921600	Weak transcription	Brain Angular Gyrus	brain
12	chr14:71912800-71918800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:71912800-71920000	Weak transcription	Right Atrium	heart
14	chr14:71912800-71921600	Weak transcription	Aorta	Aorta
15	chr14:71913200-71927000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:71914000-71927000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:71915400-71917200	Enhancers	Stomach Mucosa	stomach
18	chr14:71915800-71918800	Weak transcription	NHDF-Ad	bronchial
19	chr14:71915800-71919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:71915800-71938600	Weak transcription	Small Intestine	intestine
21	chr14:71916000-71917600	Weak transcription	Ovary	ovary
22	chr14:71916000-71921600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:71916200-71919200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:71916400-71921400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:71916400-71932000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:71916600-71918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:71916600-71919200	Weak transcription	NHEK	skin
28	chr14:71916600-71921600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:71916600-71921600	Weak transcription	Fetal Heart	heart
30	chr14:71916600-71932800	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:71917200-71921400	Weak transcription	Stomach Mucosa	stomach
32	chr14:71918000-71918200	Enhancers	Ovary	ovary
33	chr14:71918200-71918400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:71918400-71918800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:71918400-71918800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:71918600-71919800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:71918800-71919800	Enhancers	Osteobl	bone
38	chr14:71918800-71920200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:71918800-71920200	Enhancers	HMEC	breast
40	chr14:71918800-71920200	Enhancers	NHDF-Ad	bronchial
41	chr14:71919200-71919600	Enhancers	NHLF	lung
42	chr14:71919200-71919800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:71919200-71920000	Enhancers	NHEK	skin
44	chr14:71919200-71920200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:71919200-71920200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:71919200-71920200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr14:71919200-71920400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:71919400-71919600	ZNF genes & repeats	GM12878-XiMat	blood
49	chr14:71919400-71919800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:71919400-71920200	Enhancers	HUVEC	blood vessel

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