Variant report

Variant	esv3530222
Chromosome Location	chr14:73028291-73030197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:73023153..73024787-chr14:73028101..73030351,2	K562	blood:
2	chr14:73029014..73031755-chr14:73034967..73036841,2	K562	blood:
3	chr14:73027080..73029915-chr14:73030581..73032149,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560709565	chr14:73028304-73028305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2239228	chr14:73028325-73028326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs546695127	chr14:73028345-73028346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367635666	chr14:73028355-73028356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143289622	chr14:73028386-73028387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564944172	chr14:73028397-73028398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533580887	chr14:73028449-73028450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565069328	chr14:73028466-73028467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371558862	chr14:73028496-73028497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10134884	chr14:73028509-73028510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570331188	chr14:73028538-73028539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562245142	chr14:73028551-73028552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370112682	chr14:73028564-73028565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559927102	chr14:73028569-73028570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151138872	chr14:73028591-73028592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549399030	chr14:73028602-73028603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567537858	chr14:73028648-73028649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534819937	chr14:73028684-73028685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2074648	chr14:73028706-73028707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs75717694	chr14:73028743-73028744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377052570	chr14:73028768-73028769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116184243	chr14:73028784-73028785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183273763	chr14:73028796-73028797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140234881	chr14:73028870-73028871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112783323	chr14:73028926-73028927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186816157	chr14:73028944-73028945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374138295	chr14:73028956-73028957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72547270	chr14:73028997-73028998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549282402	chr14:73029001-73029002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564925176	chr14:73029009-73029010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189699065	chr14:73029085-73029086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560687036	chr14:73029088-73029089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182822910	chr14:73029089-73029090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370134634	chr14:73029096-73029097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568974370	chr14:73029097-73029098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372521581	chr14:73029109-73029110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377364178	chr14:73029110-73029111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563720953	chr14:73029126-73029127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147020174	chr14:73029133-73029134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200728150	chr14:73029138-73029139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531270874	chr14:73029139-73029140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368125974	chr14:73029146-73029147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539165461	chr14:73029172-73029173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2074647	chr14:73029178-73029179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs72547271	chr14:73029186-73029187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370836962	chr14:73029187-73029188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375212923	chr14:73029205-73029206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199552071	chr14:73029207-73029208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200511071	chr14:73029208-73029209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs746359	chr14:73029220-73029221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73012400-73032000	Weak transcription	Brain Germinal Matrix	brain
2	chr14:73024200-73028600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:73026200-73030200	Weak transcription	Primary B cells from cord blood	blood
4	chr14:73026400-73034400	Weak transcription	Fetal Brain Male	brain
5	chr14:73026600-73031200	Weak transcription	Right Ventricle	heart
6	chr14:73026800-73031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:73026800-73031200	Weak transcription	Psoas Muscle	Psoas
8	chr14:73026800-73031800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:73027000-73030000	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:73027000-73039800	Weak transcription	Fetal Brain Female	brain
11	chr14:73027200-73029600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:73027200-73030000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:73027200-73030200	Weak transcription	Left Ventricle	heart
14	chr14:73027200-73031200	Weak transcription	Right Atrium	heart
15	chr14:73027200-73031400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:73027200-73033200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:73027400-73030000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:73027400-73031600	Weak transcription	HSMMtube	muscle
19	chr14:73027400-73031800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:73027400-73032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:73027800-73031200	Weak transcription	HSMM	muscle
22	chr14:73028000-73031400	Weak transcription	Fetal Heart	heart
23	chr14:73028600-73029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:73029000-73029200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:73029200-73031800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:73029400-73031600	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:73029600-73030200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:73030000-73030200	Enhancers	Brain Hippocampus Middle	brain
29	chr14:73030000-73031200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:73030000-73033800	Enhancers	Skeletal Muscle Female	skeletal muscle

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