Variant report

Variant	esv3310792
Chromosome Location	chr14:39978130-39979368
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	chr11:62607650..62610625-chr14:39977763..39979263,2	K562	blood:

Variant related genes	Relation type
ENSG00000133316	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577877097	chr14:39978135-39978136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540515823	chr14:39978175-39978176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552815190	chr14:39978190-39978191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200848681	chr14:39978229-39978230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553798010	chr14:39978253-39978254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573681820	chr14:39978332-39978333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4899299	chr14:39978333-39978334	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528159879	chr14:39978341-39978342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531407918	chr14:39978405-39978406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185692847	chr14:39978411-39978412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574427952	chr14:39978428-39978429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565062369	chr14:39978439-39978440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143505120	chr14:39978502-39978503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539969898	chr14:39978518-39978519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145662380	chr14:39978549-39978550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190549609	chr14:39978568-39978569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529661538	chr14:39978586-39978587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12587760	chr14:39978598-39978599	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73293637	chr14:39978615-39978616	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575289446	chr14:39978617-39978618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557972400	chr14:39978632-39978633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150573148	chr14:39978639-39978640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201913101	chr14:39978640-39978641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543564272	chr14:39978650-39978651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200708298	chr14:39978652-39978653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201764569	chr14:39978653-39978654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370481422	chr14:39978654-39978655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201608482	chr14:39978656-39978657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373811972	chr14:39978657-39978658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200119800	chr14:39978658-39978659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554010193	chr14:39978664-39978665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111259084	chr14:39978680-39978681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111988717	chr14:39978734-39978735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544161826	chr14:39978737-39978738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143472386	chr14:39978802-39978803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs180960619	chr14:39978803-39978804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73293640	chr14:39978857-39978858	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576519733	chr14:39978921-39978922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545165873	chr14:39979000-39979001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78665473	chr14:39979022-39979023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147995943	chr14:39979023-39979024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541355090	chr14:39979082-39979083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115811156	chr14:39979098-39979099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183668939	chr14:39979151-39979152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549711583	chr14:39979216-39979217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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