Variant report

Variant	esv2761831
Chromosome Location	chr14:43359182-43409296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:43400957..43403839-chr14:43411304..43413197,2	MCF-7	breast:
2	chr14:43401494..43403926-chr14:43416665..43419045,2	MCF-7	breast:
3	chr14:43363585..43364127-chr16:88972090..88972960,2	MCF-7	breast:
4	chr14:43390134..43392136-chr14:43396787..43398686,2	MCF-7	breast:
5	chr14:43390134..43392136-chr14:43396787..43398686,2	MCF-7	breast:
6	chr14:43380269..43381028-chr14:44264574..44265376,2	MCF-7	breast:

Extended variants
information (count: 278 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12050209	chr14:43396426-43396427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79837784	chr14:43396431-43396432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534666575	chr14:43396453-43396454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546888039	chr14:43396473-43396474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376908597	chr14:43396515-43396516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75440037	chr14:43396633-43396634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377526290	chr14:43396647-43396648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11850910	chr14:43396666-43396667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192761083	chr14:43396676-43396677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575271587	chr14:43396722-43396723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12050399	chr14:43396723-43396724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554898142	chr14:43396739-43396740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79555567	chr14:43396754-43396755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184468152	chr14:43396766-43396767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373746714	chr14:43396775-43396776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116408690	chr14:43396790-43396791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370245522	chr14:43396800-43396801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190574234	chr14:43396832-43396833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149798564	chr14:43396836-43396837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35800989	chr14:43396838-43396839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566095725	chr14:43396839-43396840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115387718	chr14:43396845-43396846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538012810	chr14:43396847-43396848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535337190	chr14:43396879-43396880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549021478	chr14:43396905-43396906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145745484	chr14:43396909-43396910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534387606	chr14:43396912-43396913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577692055	chr14:43396917-43396918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546651623	chr14:43396938-43396939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74049835	chr14:43396944-43396945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554129171	chr14:43396946-43396947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573347853	chr14:43396965-43396966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550720246	chr14:43396980-43396981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569209489	chr14:43397109-43397110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536516782	chr14:43397133-43397134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535823117	chr14:43397163-43397164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566838933	chr14:43397263-43397264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534082283	chr14:43397275-43397276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373321281	chr14:43397283-43397284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554099776	chr14:43397286-43397287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577371861	chr14:43397302-43397303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376533618	chr14:43397305-43397306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545228628	chr14:43397351-43397352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557165322	chr14:43397384-43397385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78663190	chr14:43397410-43397411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542891567	chr14:43397411-43397412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542911802	chr14:43397414-43397415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560749515	chr14:43397457-43397458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528086066	chr14:43397477-43397478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141023496	chr14:43397498-43397499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43396400-43397400	Enhancers	A549	lung
2	chr14:43396800-43397600	Enhancers	Hela-S3	cervix
3	chr14:43397400-43397800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:43397800-43398000	Enhancers	Pancreas	Pancrea
5	chr14:43398000-43399200	Weak transcription	Pancreas	Pancrea
6	chr14:43398200-43399000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:43398200-43399800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:43398400-43398600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr14:43398400-43399000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:43398600-43398800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr14:43398800-43399000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:43399000-43399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:43399000-43399200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:43399000-43399600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr14:43399000-43399800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr14:43399000-43399800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:43399200-43399400	Enhancers	Fetal Kidney	kidney
18	chr14:43399200-43399600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:43399200-43399600	Active TSS	Adipose Nuclei	Adipose
20	chr14:43399200-43399600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr14:43399200-43399600	Enhancers	Spleen	Spleen
22	chr14:43399200-43399800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:43399200-43399800	Enhancers	Primary hematopoietic stem cells	blood
24	chr14:43399200-43399800	Enhancers	Pancreas	Pancrea
25	chr14:43399400-43399600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:43399400-43399800	Enhancers	Fetal Muscle Leg	muscle
27	chr14:43399600-43399800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:43399600-43399800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:43399600-43399800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr14:43399800-43400000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:43399800-43400000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:43403600-43404200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:43406600-43407000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:43407000-43413200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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