Variant report

Variant	esv1950322
Chromosome Location	chr14:21651090-21651726
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	chr14:21651029..21652913-chr14:21654690..21656270,2	K562	blood:
2	chr14:21649811..21651897-chr14:21658475..21660736,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73573896	chr14:21651102-21651103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs118075856	chr14:21651117-21651118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536786016	chr14:21651122-21651123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557113200	chr14:21651129-21651130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372360104	chr14:21651162-21651163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573830883	chr14:21651170-21651171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28380206	chr14:21651171-21651172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182216940	chr14:21651187-21651188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148546106	chr14:21651228-21651229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202064432	chr14:21651245-21651246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9707698	chr14:21651253-21651254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35230291	chr14:21651258-21651259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34466085	chr14:21651261-21651262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565178051	chr14:21651263-21651264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148939848	chr14:21651285-21651286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs36020053	chr14:21651288-21651289	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561056533	chr14:21651300-21651301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187231185	chr14:21651312-21651313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34451407	chr14:21651315-21651316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34635554	chr14:21651334-21651335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566801183	chr14:21651335-21651336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35347297	chr14:21651342-21651343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551347768	chr14:21651344-21651345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34528051	chr14:21651369-21651370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375757270	chr14:21651370-21651371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571201029	chr14:21651389-21651390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536910613	chr14:21651391-21651392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34021354	chr14:21651396-21651397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140915905	chr14:21651397-21651398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537515776	chr14:21651404-21651405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34915195	chr14:21651415-21651416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34766329	chr14:21651421-21651422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536422515	chr14:21651433-21651434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34495860	chr14:21651448-21651449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35885619	chr14:21651475-21651476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34355199	chr14:21651502-21651503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62648170	chr14:21651610-21651611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553240581	chr14:21651630-21651631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573167292	chr14:21651634-21651635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62648171	chr14:21651637-21651638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545023497	chr14:21651647-21651648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62648172	chr14:21651664-21651665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374895226	chr14:21651688-21651689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34433335	chr14:21651691-21651692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201677591	chr14:21651698-21651699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558819930	chr14:21651701-21651702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200071012	chr14:21651707-21651708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372997845	chr14:21651715-21651716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575508682	chr14:21651717-21651718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21650000-21651400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:21650800-21651200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:21651000-21652000	Weak transcription	Fetal Brain Male	brain
4	chr14:21651200-21659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:21651400-21651800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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