Variant report

Variant	esv3693160
Chromosome Location	chr14:22031973-22034624
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	chr14:22030267..22032790-chr14:22033659..22035235,2	K562	blood:

Variant related genes	Relation type
ENSG00000256737	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17197240	chr14:22031973-22031974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182944934	chr14:22031991-22031992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548857207	chr14:22031992-22031993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187493582	chr14:22032002-22032003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17182592	chr14:22032003-22032004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551399427	chr14:22032012-22032013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73583066	chr14:22032018-22032019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537196498	chr14:22032019-22032020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78934556	chr14:22032028-22032029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369491269	chr14:22032046-22032047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191602071	chr14:22032059-22032060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145996161	chr14:22032066-22032067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11628102	chr14:22032076-22032077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573594616	chr14:22032084-22032085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374743239	chr14:22032173-22032174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76868804	chr14:22032212-22032213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557832817	chr14:22032223-22032224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61678236	chr14:22032240-22032241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184152695	chr14:22032273-22032274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77706658	chr14:22032311-22032312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141825047	chr14:22032313-22032314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187567971	chr14:22032316-22032317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559103182	chr14:22032337-22032338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528400152	chr14:22032338-22032339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551262576	chr14:22032377-22032378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373078904	chr14:22032383-22032384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571349713	chr14:22032412-22032413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530945236	chr14:22032461-22032462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550655557	chr14:22032487-22032488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76007009	chr14:22032504-22032505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113407123	chr14:22032546-22032547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536314957	chr14:22032551-22032552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72686005	chr14:22032592-22032593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567066921	chr14:22032686-22032687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150723768	chr14:22032698-22032699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559302010	chr14:22032715-22032716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192736579	chr14:22032731-22032732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543425132	chr14:22032934-22032935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556646940	chr14:22032975-22032976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142004435	chr14:22032980-22032981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76025015	chr14:22033010-22033011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546543966	chr14:22033015-22033016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113343966	chr14:22033064-22033065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185384666	chr14:22033171-22033172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544766792	chr14:22033220-22033221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564839531	chr14:22033249-22033250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530689442	chr14:22033254-22033255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61971787	chr14:22033294-22033295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59363322	chr14:22033302-22033303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567537902	chr14:22033352-22033353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Schizophrenia	23813976	CNVD
Ewing''s sarcoma	18628472	CNVD
Ependymoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22018800-22035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22026800-22038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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