Variant report

Variant	esv2759979
Chromosome Location	chr14:38788605-38804433
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	chr14:38794042..38795587-chr14:38809316..38811122,2	MCF-7	breast:

Extended variants
information (count: 221 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4898944	chr14:38788605-38788606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144256534	chr14:38788621-38788622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549759329	chr14:38788622-38788623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570060214	chr14:38788639-38788640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532679139	chr14:38788674-38788675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552849228	chr14:38788677-38788678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139035417	chr14:38788706-38788707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79620124	chr14:38788719-38788720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554665968	chr14:38788758-38788759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187038448	chr14:38788809-38788810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142951084	chr14:38788823-38788824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556663608	chr14:38788827-38788828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576809576	chr14:38788877-38788878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13353118	chr14:38788897-38788898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192930207	chr14:38788909-38788910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372118368	chr14:38788914-38788915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79463538	chr14:38788938-38788939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67874272	chr14:38789024-38789025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201408016	chr14:38789026-38789027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200024991	chr14:38789027-38789028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397793524	chr14:38789030-38789031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561591532	chr14:38789033-38789034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55783126	chr14:38789099-38789100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530110672	chr14:38789100-38789101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113267187	chr14:38789134-38789135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543544483	chr14:38789158-38789159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563499779	chr14:38789173-38789174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567576436	chr14:38789195-38789196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76070528	chr14:38789264-38789265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374802862	chr14:38789292-38789293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147539267	chr14:38789329-38789330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114208640	chr14:38789333-38789334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548797232	chr14:38789348-38789349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568699510	chr14:38789392-38789393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537130437	chr14:38789393-38789394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369140142	chr14:38789434-38789435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570326462	chr14:38789472-38789473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541554626	chr14:38789496-38789497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185012626	chr14:38789522-38789523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552733183	chr14:38789535-38789536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372969674	chr14:38789561-38789562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572795550	chr14:38789589-38789590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541746976	chr14:38789626-38789627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111912436	chr14:38789755-38789756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555126731	chr14:38789768-38789769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575112925	chr14:38789773-38789774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139373753	chr14:38789795-38789796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140155060	chr14:38789802-38789803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563806567	chr14:38789834-38789835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8005154	chr14:38789840-38789841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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	21364760	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 cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38788400-38791000	Weak transcription	Ovary	ovary
2	chr14:38789800-38790200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:38790200-38790800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:38798600-38799200	Enhancers	Hela-S3	cervix
5	chr14:38798600-38799400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:38798600-38800000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:38798800-38800000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:38799000-38800000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:38799200-38799800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:38799400-38799600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:38799600-38800000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:38802000-38803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:38802600-38804400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:38804400-38805000	Enhancers	Pancreatic Islets	Pancreatic Islet

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