Variant report

Variant	esv2422026
Chromosome Location	chr14:78786339-78791625
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	chr14:78789215..78792155-chr14:78794706..78796718,2	K562	blood:

Extended variants
information (count: 226 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:226 , 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	rs8021890	chr14:78786339-78786340	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139739604	chr14:78786344-78786345	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs527435790	chr14:78786348-78786349	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs547090934	chr14:78786383-78786384	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs367718975	chr14:78786410-78786411	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144486930	chr14:78786434-78786435	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146160888	chr14:78786435-78786436	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs74655540	chr14:78786467-78786468	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569270965	chr14:78786473-78786474	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567388464	chr14:78786512-78786513	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148715430	chr14:78786596-78786597	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569587200	chr14:78786599-78786600	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555259437	chr14:78786605-78786606	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575091087	chr14:78786680-78786681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540444782	chr14:78786720-78786721	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553847913	chr14:78786731-78786732	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs61467094	chr14:78786776-78786777	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545865318	chr14:78786804-78786805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562194815	chr14:78786820-78786821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74888861	chr14:78786828-78786829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538109696	chr14:78786887-78786888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151262627	chr14:78786925-78786926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561619547	chr14:78786938-78786939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527496649	chr14:78786968-78786969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547309351	chr14:78786980-78786981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77394643	chr14:78786987-78786988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532544727	chr14:78787006-78787007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552630312	chr14:78787032-78787033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75114953	chr14:78787036-78787037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538195162	chr14:78787133-78787134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548923158	chr14:78787162-78787163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568738110	chr14:78787170-78787171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534491290	chr14:78787188-78787189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554099754	chr14:78787191-78787192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2091903	chr14:78787198-78787199	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs60849072	chr14:78787213-78787214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553269113	chr14:78787275-78787276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575652211	chr14:78787288-78787289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541388185	chr14:78787327-78787328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10143152	chr14:78787343-78787344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61976031	chr14:78787366-78787367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541314666	chr14:78787413-78787414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564165604	chr14:78787444-78787445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140758153	chr14:78787457-78787458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147452483	chr14:78787461-78787462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377010259	chr14:78787466-78787467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114027644	chr14:78787492-78787493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79681756	chr14:78787508-78787509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147009138	chr14:78787521-78787522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111997755	chr14:78787528-78787529	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78779200-78787000	Enhancers	Brain Germinal Matrix	brain
2	chr14:78783200-78794000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:78784800-78786400	Enhancers	K562	blood
4	chr14:78785200-78787000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:78785400-78787200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:78785600-78786600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:78786000-78786600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:78786000-78786800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:78786200-78786400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:78786200-78786800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:78786200-78786800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:78786400-78786600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:78786400-78786800	Flanking Active TSS	K562	blood
14	chr14:78786800-78787000	Enhancers	Ovary	ovary
15	chr14:78786800-78787400	Enhancers	K562	blood
16	chr14:78787200-78794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:78787400-78789000	Weak transcription	K562	blood
18	chr14:78787600-78788600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:78789000-78789400	Enhancers	K562	blood
20	chr14:78789600-78790000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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