Variant report

Variant	esv3375753
Chromosome Location	chr14:81476893-81478555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81476596..81478510-chr14:81478665..81481342,2	K562	blood:
2	chr14:81464422..81467304-chr14:81478351..81480140,2	MCF-7	breast:
3	chr14:81468835..81472649-chr14:81474348..81477215,3	K562	blood:
4	chr14:81472830..81475161-chr14:81475745..81477749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271656	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190370012	chr14:81476967-81476968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114104971	chr14:81476973-81476974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111761197	chr14:81476981-81476982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540773351	chr14:81476984-81476985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72695035	chr14:81477015-81477016	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546416119	chr14:81477052-81477053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564519344	chr14:81477143-81477144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368827921	chr14:81477196-81477197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192932106	chr14:81477273-81477274	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115921179	chr14:81477277-81477278	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184788023	chr14:81477284-81477285	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113773947	chr14:81477297-81477298	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563212615	chr14:81477311-81477312	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61978721	chr14:81477335-81477336	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373425214	chr14:81477350-81477351	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114566748	chr14:81477363-81477364	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569780116	chr14:81477394-81477395	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536738670	chr14:81477407-81477408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115449440	chr14:81477410-81477411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs4903965	chr14:81477437-81477438	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs60279325	chr14:81477443-81477444	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552869851	chr14:81477449-81477450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs574343195	chr14:81477450-81477451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148973260	chr14:81477468-81477469	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115531064	chr14:81477488-81477489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76046215	chr14:81477531-81477532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs398099499	chr14:81477536-81477537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370592046	chr14:81477551-81477552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10627242	chr14:81477567-81477568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34959933	chr14:81477568-81477569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs5810009	chr14:81477576-81477577	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575737893	chr14:81477638-81477639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs116805391	chr14:81477643-81477644	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs114791931	chr14:81477670-81477671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576006380	chr14:81477696-81477697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs373652500	chr14:81477708-81477709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs142982217	chr14:81477718-81477719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs189472831	chr14:81477759-81477760	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs72695038	chr14:81477836-81477837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs180692869	chr14:81477841-81477842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370951130	chr14:81477876-81477877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551971101	chr14:81477926-81477927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183931474	chr14:81477957-81477958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs563857566	chr14:81477962-81477963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534519366	chr14:81477978-81477979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs151124929	chr14:81477985-81477986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568053282	chr14:81478073-81478074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535356314	chr14:81478075-81478076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568345410	chr14:81478077-81478078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141084873	chr14:81478125-81478126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81455800-81492200	Weak transcription	Fetal Thymus	thymus
2	chr14:81468000-81486600	Weak transcription	Thymus	Thymus
3	chr14:81470400-81477200	Weak transcription	Dnd41	blood
4	chr14:81476400-81477200	Weak transcription	K562	blood
5	chr14:81477200-81477400	Enhancers	K562	blood
6	chr14:81477200-81478000	ZNF genes & repeats	Dnd41	blood
7	chr14:81478000-81482600	Weak transcription	Dnd41	blood

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