Variant report

Variant	esv3389491
Chromosome Location	chr14:20481112-20483310
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	chr14:20479309..20481272-chr14:20484820..20486760,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539150551	chr14:20482606-20482607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112130140	chr14:20482613-20482614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs372238009	chr14:20482622-20482623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376853696	chr14:20482624-20482625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369576157	chr14:20482637-20482638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201416953	chr14:20482655-20482656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374172388	chr14:20482659-20482660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186457874	chr14:20482660-20482661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575064126	chr14:20482667-20482668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532165188	chr14:20482668-20482669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138494163	chr14:20482673-20482674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs267603918	chr14:20482687-20482688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191053630	chr14:20482694-20482695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147797181	chr14:20482704-20482705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547365570	chr14:20482711-20482712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141271240	chr14:20482732-20482733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139471333	chr14:20482753-20482754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs150702306	chr14:20482764-20482765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs564561908	chr14:20482770-20482771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs531583013	chr14:20482772-20482773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536182010	chr14:20482776-20482777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149838792	chr14:20482791-20482792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376719079	chr14:20482793-20482794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549980035	chr14:20482796-20482797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs143876579	chr14:20482815-20482816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139793752	chr14:20482816-20482817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200226562	chr14:20482835-20482836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547328684	chr14:20482838-20482839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373073211	chr14:20482846-20482847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs377371465	chr14:20482879-20482880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200693939	chr14:20482881-20482882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs369237381	chr14:20482891-20482892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144784636	chr14:20482898-20482899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373417059	chr14:20482900-20482901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs17308108	chr14:20482919-20482920	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77403071	chr14:20482945-20482946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs199620022	chr14:20482952-20482953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs374660996	chr14:20482964-20482965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140358609	chr14:20482981-20482982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377562196	chr14:20482983-20482984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570182837	chr14:20482988-20482989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs199691269	chr14:20482990-20482991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369896383	chr14:20482996-20482997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs7157076	chr14:20482998-20482999	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs370671406	chr14:20483009-20483010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374289071	chr14:20483126-20483127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113203960	chr14:20483150-20483151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375883528	chr14:20483154-20483155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs370487163	chr14:20483164-20483165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374081484	chr14:20483175-20483176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20482600-20483200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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