Variant report

Variant	nsv826970
Chromosome Location	chr14:67966521-67971459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67945641..67948338-chr14:67966357..67969353,2	MCF-7	breast:
2	chr14:67966981..67969114-chr14:68003205..68004722,2	MCF-7	breast:
3	chr14:67966210..67968491-chr14:67971245..67973933,2	K562	blood:
4	chr14:67966210..67968491-chr14:67971245..67973933,2	K562	blood:
5	chr14:67968272..67970276-chr14:67989655..67991450,2	MCF-7	breast:
6	chr14:67946762..67947287-chr14:67969455..67970025,2	MCF-7	breast:

Extended variants
information (count: 211 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201720818	chr14:67966560-67966561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199883021	chr14:67966562-67966563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560375367	chr14:67966592-67966593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10873201	chr14:67966599-67966600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10873202	chr14:67966622-67966623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs141475642	chr14:67966638-67966639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145164010	chr14:67966639-67966640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36001109	chr14:67966648-67966649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138994058	chr14:67966719-67966720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562300272	chr14:67966734-67966735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529467073	chr14:67966791-67966792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142158708	chr14:67966809-67966810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566377765	chr14:67966854-67966855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539703068	chr14:67966860-67966861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143747678	chr14:67966864-67966865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534190274	chr14:67966884-67966885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148120534	chr14:67966886-67966887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188029365	chr14:67966921-67966922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374910981	chr14:67966942-67966943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141883236	chr14:67966947-67966948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181959952	chr14:67966961-67966962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574576035	chr14:67967041-67967042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535664746	chr14:67967043-67967044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35209200	chr14:67967053-67967054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553654543	chr14:67967057-67967058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538368916	chr14:67967060-67967061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572306066	chr14:67967063-67967064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186188651	chr14:67967073-67967074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189087565	chr14:67967113-67967114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150624872	chr14:67967148-67967149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543961018	chr14:67967153-67967154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562231434	chr14:67967162-67967163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529334749	chr14:67967164-67967165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369367769	chr14:67967169-67967170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547978486	chr14:67967170-67967171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559645399	chr14:67967208-67967209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140719540	chr14:67967266-67967267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551649639	chr14:67967286-67967287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529810754	chr14:67967290-67967291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78153600	chr14:67967305-67967306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144345858	chr14:67967307-67967308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570148781	chr14:67967329-67967330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556677389	chr14:67967350-67967351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537428491	chr14:67967351-67967352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575125404	chr14:67967352-67967353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549340566	chr14:67967357-67967358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568167321	chr14:67967358-67967359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201044084	chr14:67967387-67967388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373058608	chr14:67967413-67967414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181939421	chr14:67967432-67967433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
5	chr14:67960600-67968400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:67961400-67972600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:67961400-67979400	Weak transcription	Primary B cells from cord blood	blood
8	chr14:67961400-67979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:67961600-67976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:67961600-67979400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:67961800-67976400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:67962800-67979200	Weak transcription	Pancreas	Pancrea
13	chr14:67964000-67970000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:67964800-67967800	Weak transcription	Placenta	Placenta
16	chr14:67965000-67969600	Weak transcription	Fetal Intestine Small	intestine
17	chr14:67965000-67979400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
21	chr14:67967800-67968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:67967800-67968000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:67967800-67968000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:67967800-67968000	Enhancers	NHEK	skin
25	chr14:67967800-67968400	Enhancers	Placenta	Placenta
26	chr14:67968200-67969800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:67968200-67973000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:67968200-67973000	Weak transcription	NHEK	skin
29	chr14:67968400-67968600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr14:67968400-67970000	Weak transcription	Placenta	Placenta
31	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:67969400-67969600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:67969400-67970400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr14:67969600-67970200	Enhancers	Fetal Intestine Small	intestine
35	chr14:67969600-67970200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr14:67969800-67970200	Enhancers	Liver	Liver
37	chr14:67969800-67970200	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:67969800-67970200	Enhancers	Hela-S3	cervix
39	chr14:67970000-67970200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:67970000-67970200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:67970000-67970200	Enhancers	Fetal Intestine Large	intestine
42	chr14:67970000-67970200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:67970000-67970400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:67970000-67970400	Enhancers	Placenta	Placenta
45	chr14:67970200-67970400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr14:67970200-67971000	Weak transcription	Fetal Intestine Small	intestine
47	chr14:67970200-67974000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:67970200-67974400	Weak transcription	Fetal Intestine Large	intestine
49	chr14:67970200-67980200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:67970200-67980800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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