Variant report

Variant	esv1805575
Chromosome Location	chr14:40647798-40685172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40681513..40685602-chr14:40687253..40690509,3	MCF-7	breast:
2	chr14:40653379..40656063-chr14:40662634..40665272,2	MCF-7	breast:
3	chr14:40665163..40668021-chr14:40668586..40671186,2	MCF-7	breast:
4	chr14:40672645..40675183-chr14:40686858..40690836,3	MCF-7	breast:
5	chr14:40665163..40668021-chr14:40668586..40671186,2	MCF-7	breast:
6	chr14:40676693..40679058-chr14:40690330..40692454,2	MCF-7	breast:
7	chr14:40653379..40656063-chr14:40662634..40665272,2	MCF-7	breast:
8	chr14:40669052..40670615-chr14:40680616..40683029,2	MCF-7	breast:
9	chr14:40669052..40670615-chr14:40680616..40683029,2	MCF-7	breast:

No data

Extended variants
information (count: 87 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150290186	chr14:40672802-40672803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537450521	chr14:40672803-40672804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373585137	chr14:40672808-40672809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368856857	chr14:40672842-40672843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs137913369	chr14:40672853-40672854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377138047	chr14:40672856-40672857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143480814	chr14:40672861-40672862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145904249	chr14:40672875-40672876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34919515	chr14:40672885-40672886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181519851	chr14:40672898-40672899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541995852	chr14:40672914-40672915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139240131	chr14:40672920-40672921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186490823	chr14:40672929-40672930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544628604	chr14:40672932-40672933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376942907	chr14:40672951-40672952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34013092	chr14:40672956-40672957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564341464	chr14:40672966-40672967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116168347	chr14:40673005-40673006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149411761	chr14:40673007-40673008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538674778	chr14:40673053-40673054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144794379	chr14:40673113-40673114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551437446	chr14:40673130-40673131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560124711	chr14:40673138-40673139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116849918	chr14:40673154-40673155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12881515	chr14:40673157-40673158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568619841	chr14:40673197-40673198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531173556	chr14:40673207-40673208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375798983	chr14:40673221-40673222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148578511	chr14:40673238-40673239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs8006378	chr14:40673256-40673257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142010007	chr14:40673290-40673291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536176750	chr14:40673311-40673312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566998268	chr14:40673367-40673368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189609519	chr14:40673384-40673385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146047998	chr14:40673390-40673391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575826014	chr14:40673438-40673439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140043484	chr14:40673441-40673442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181909808	chr14:40673449-40673450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371854333	chr14:40673491-40673492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577854983	chr14:40673506-40673507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540200810	chr14:40673511-40673512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560292071	chr14:40673516-40673517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529039602	chr14:40673523-40673524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542428607	chr14:40673547-40673548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76999768	chr14:40673612-40673613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531332065	chr14:40673629-40673630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143689462	chr14:40673633-40673634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571192895	chr14:40673643-40673644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567449149	chr14:40673663-40673664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537976306	chr14:40673703-40673704	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	22102821	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40672800-40674000	Enhancers	Fetal Muscle Leg	muscle
2	chr14:40681600-40682200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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