Variant report

Variant	esv2760361
Chromosome Location	chr14:43061914-43076214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:43071917-43072221	HepG2	liver:	n/a	n/a
2	E2F4	chr14:43074824-43075171	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr14:43064605-43064991	MCF-7	breast:	n/a	n/a
4	JUN	chr14:43074158-43074244	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUN	chr14:43076155-43076369	HepG2	liver:	n/a	chr14:43076233-43076246
6	JUND	chr14:43076151-43076406	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:43068587-43068787	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr14:43073607-43073752	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr14:43075016-43075173	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr14:43073039-43073111	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:43062325-43062344	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr14:43066667-43066707	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr14:43070546-43070583	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF7L2	chr14:43065827-43066080	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:43055616..43058571-chr14:43062767..43065185,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258505	TF binding region

Extended variants
information (count: 179 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74416492	chr14:43064212-43064213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546853517	chr14:43064234-43064235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34958134	chr14:43064248-43064249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs68159515	chr14:43064249-43064250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144430630	chr14:43064258-43064259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139522489	chr14:43064265-43064266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397852010	chr14:43064268-43064269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11847453	chr14:43064269-43064270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557322775	chr14:43064270-43064271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374752720	chr14:43064273-43064274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368569844	chr14:43064279-43064280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28369302	chr14:43064314-43064315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548097462	chr14:43064322-43064323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77421054	chr14:43064325-43064326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554361618	chr14:43064326-43064327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572847155	chr14:43064337-43064338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149684787	chr14:43064340-43064341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145813192	chr14:43064353-43064354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577044089	chr14:43064367-43064368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186238728	chr14:43064380-43064381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113734560	chr14:43064382-43064383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148969946	chr14:43064385-43064386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74047721	chr14:43064392-43064393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7158483	chr14:43064400-43064401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10144120	chr14:43071202-43071203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138084427	chr14:43071218-43071219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572535185	chr14:43071229-43071230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143732480	chr14:43071246-43071247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565066962	chr14:43071254-43071255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6572162	chr14:43071270-43071271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183230958	chr14:43071327-43071328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188739910	chr14:43071384-43071385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60444854	chr14:43071388-43071389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561159693	chr14:43071389-43071390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138410177	chr14:43071408-43071409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566147075	chr14:43071415-43071416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60589239	chr14:43071440-43071441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552015837	chr14:43071443-43071444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191030010	chr14:43071472-43071473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538101020	chr14:43071499-43071500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556719796	chr14:43071555-43071556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568619302	chr14:43071582-43071583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79902645	chr14:43071609-43071610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554178718	chr14:43071626-43071627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149239917	chr14:43071733-43071734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572500122	chr14:43071759-43071760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541494157	chr14:43071809-43071810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558012012	chr14:43071847-43071848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532676492	chr14:43071903-43071904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182465728	chr14:43071938-43071939	Enhancers	n/a	n/a	Overlapped CNVs	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
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
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43064200-43064400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:43071200-43072000	Enhancers	Fetal Lung	lung
3	chr14:43072000-43075400	Weak transcription	Fetal Lung	lung
4	chr14:43075200-43075400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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