Variant report

Variant	esv2757577
Chromosome Location	chr14:78875607-78912967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78881286..78883111-chr14:78884588..78886663,2	K562	blood:
2	chr14:78868093..78870050-chr14:78874447..78876831,2	K562	blood:
3	chr14:78861659..78863872-chr14:78874003..78876017,2	K562	blood:
4	chr14:78881286..78883111-chr14:78884588..78886663,2	K562	blood:

Extended variants
information (count: 1434 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1434 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12892370	chr14:78875607-78875608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35357313	chr14:78875613-78875614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538626355	chr14:78875627-78875628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33987785	chr14:78875650-78875651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77801151	chr14:78875651-78875652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558501743	chr14:78875667-78875668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76600654	chr14:78875692-78875693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149212964	chr14:78875765-78875766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561328032	chr14:78875781-78875782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367988664	chr14:78875784-78875785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535468667	chr14:78875857-78875858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7155022	chr14:78875870-78875871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72681530	chr14:78875875-78875876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532171607	chr14:78875914-78875915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146917097	chr14:78875952-78875953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17755949	chr14:78875971-78875972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs531515973	chr14:78876044-78876045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548418286	chr14:78876081-78876082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568209702	chr14:78876121-78876122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117885560	chr14:78876152-78876153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540822320	chr14:78876231-78876232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77273323	chr14:78876258-78876259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72681532	chr14:78876265-78876266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10139602	chr14:78876273-78876274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139025534	chr14:78876295-78876296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569187804	chr14:78876298-78876299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143012907	chr14:78876314-78876315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555238067	chr14:78876352-78876353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560852310	chr14:78876380-78876381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574965705	chr14:78876406-78876407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540805877	chr14:78876444-78876445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374141393	chr14:78876454-78876455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185337129	chr14:78876457-78876458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138412700	chr14:78876501-78876502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562472908	chr14:78876578-78876579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17107523	chr14:78876595-78876596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531332850	chr14:78876598-78876599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6574440	chr14:78876626-78876627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561995083	chr14:78876630-78876631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60195559	chr14:78876647-78876648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573571398	chr14:78876654-78876655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547206267	chr14:78876678-78876679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10139945	chr14:78876693-78876694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6574441	chr14:78876704-78876705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs188238292	chr14:78876706-78876707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141240865	chr14:78876734-78876735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10483900	chr14:78876747-78876748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76044648	chr14:78876793-78876794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80111786	chr14:78876813-78876814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533684422	chr14:78876814-78876815	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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78873400-78880600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:78873400-78881400	Weak transcription	Brain Anterior Caudate	brain
3	chr14:78873600-78876600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:78873600-78880600	Weak transcription	Brain Angular Gyrus	brain
5	chr14:78874200-78876600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:78874200-78881000	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:78875200-78878000	Weak transcription	GM12878-XiMat	blood
8	chr14:78876600-78876800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:78877600-78877800	Weak transcription	Brain Germinal Matrix	brain
10	chr14:78877800-78878000	Enhancers	Brain Germinal Matrix	brain
11	chr14:78878000-78879200	Enhancers	GM12878-XiMat	blood
12	chr14:78878000-78880000	Weak transcription	Brain Germinal Matrix	brain
13	chr14:78878400-78878600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:78879200-78883000	Weak transcription	GM12878-XiMat	blood
15	chr14:78880000-78880400	Enhancers	Brain Germinal Matrix	brain
16	chr14:78880400-78880600	Weak transcription	Brain Germinal Matrix	brain
17	chr14:78880600-78880800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:78880600-78881200	Enhancers	Brain Angular Gyrus	brain
19	chr14:78880600-78882400	Enhancers	Brain Germinal Matrix	brain
20	chr14:78880800-78881200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:78881000-78881200	Enhancers	Brain Hippocampus Middle	brain
22	chr14:78881200-78881600	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:78881200-78881800	Weak transcription	Brain Angular Gyrus	brain
24	chr14:78881200-78882000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr14:78881400-78882200	Enhancers	Brain Anterior Caudate	brain
26	chr14:78881600-78882000	Enhancers	Brain Hippocampus Middle	brain
27	chr14:78881800-78882000	Enhancers	Brain Angular Gyrus	brain
28	chr14:78882000-78884200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:78882400-78888000	Weak transcription	Brain Germinal Matrix	brain
30	chr14:78883000-78883200	ZNF genes & repeats	GM12878-XiMat	blood
31	chr14:78883200-78884000	Enhancers	GM12878-XiMat	blood
32	chr14:78884000-78884400	Weak transcription	GM12878-XiMat	blood
33	chr14:78884400-78884600	Enhancers	GM12878-XiMat	blood
34	chr14:78884600-78888200	Weak transcription	GM12878-XiMat	blood
35	chr14:78886000-78886400	Enhancers	Fetal Brain Male	brain
36	chr14:78886400-78898200	Weak transcription	Fetal Brain Male	brain
37	chr14:78888000-78888600	Enhancers	Brain Germinal Matrix	brain
38	chr14:78888200-78889200	Enhancers	GM12878-XiMat	blood
39	chr14:78888400-78888600	Enhancers	Adipose Nuclei	Adipose
40	chr14:78888600-78889000	Weak transcription	Brain Germinal Matrix	brain
41	chr14:78889000-78889600	Enhancers	Brain Germinal Matrix	brain
42	chr14:78889200-78889800	Weak transcription	GM12878-XiMat	blood
43	chr14:78889600-78891600	Weak transcription	Brain Germinal Matrix	brain
44	chr14:78889800-78890000	Enhancers	GM12878-XiMat	blood
45	chr14:78890000-78891600	Weak transcription	GM12878-XiMat	blood
46	chr14:78891600-78892000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:78891600-78892200	Enhancers	Brain Germinal Matrix	brain
48	chr14:78891600-78894400	Enhancers	GM12878-XiMat	blood
49	chr14:78892200-78892600	Enhancers	Lung	lung
50	chr14:78892200-78892600	Enhancers	Skeletal Muscle Male	skeletal muscle

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