Variant report

Variant	esv3365884
Chromosome Location	chr14:38419250-38438768
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	chr14:38438069-38438416	Hela-S3	cervix:	n/a	chr14:38438223-38438236 chr14:38438289-38438302 chr14:38438224-38438235 chr14:38438223-38438236
2	CEBPB	chr14:38438026-38438330	MCF-7	breast:	n/a	chr14:38438223-38438236 chr14:38438289-38438302 chr14:38438224-38438235 chr14:38438223-38438236
3	CEBPB	chr14:38438127-38438385	HepG2	liver:	n/a	chr14:38438223-38438236 chr14:38438289-38438302 chr14:38438224-38438235 chr14:38438223-38438236
4	CTCF	chr14:38431120-38431270	Caco-2	colon:	n/a	n/a
5	CTCF	chr14:38430201-38430278	Hela-S3	cervix:	n/a	chr14:38430215-38430223
6	CTCF	chr14:38430180-38430330	MCF-7	breast:	n/a	chr14:38430215-38430223
7	E2F4	chr14:38438130-38438298	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:38438143-38438343	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr14:38438066-38438350	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr14:38438082-38438348	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA2	chr14:38425036-38425514	A549	lung:	n/a	n/a
12	FOXA2	chr14:38425068-38425394	A549	lung:	n/a	n/a
13	MAFF	chr14:38425786-38425834	HepG2	liver:	n/a	n/a
14	MAFF	chr14:38437902-38438225	HepG2	liver:	n/a	n/a
15	MAFK	chr14:38437897-38438220	HepG2	liver:	n/a	n/a
16	MAFK	chr14:38437912-38438241	HepG2	liver:	n/a	n/a
17	MAFK	chr14:38430271-38430367	HepG2	liver:	n/a	chr14:38430339-38430350 chr14:38430339-38430350 chr14:38430338-38430352 chr14:38430340-38430351 chr14:38430339-38430355
18	MAFK	chr14:38437935-38438151	IMR90	lung:	n/a	n/a
19	POLR2A	chr14:38432522-38432554	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:38430910-38430969	GM12878	blood:	n/a	n/a
21	STAT3	chr14:38434577-38434716	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr14:38438061-38438218	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC14A-4	chr14:38429696-38429748	l_970_chr14:38376598-38429748_brain

Variant related genes	Relation type
TTC6	TF binding region

Extended variants
information (count: 173 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs570561643	chr14:38425418-38425419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201615603	chr14:38425432-38425433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs8014847	chr14:38425433-38425434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs8014454	chr14:38425438-38425439	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35535246	chr14:38425439-38425440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147228638	chr14:38425440-38425441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113709939	chr14:38425446-38425447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs562393581	chr14:38425458-38425459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs187655385	chr14:38425482-38425483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112348198	chr14:38425534-38425535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564065146	chr14:38425553-38425554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532898109	chr14:38425585-38425586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111864309	chr14:38425590-38425591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs191321921	chr14:38425592-38425593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs566575593	chr14:38425593-38425594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs529082048	chr14:38425602-38425603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575628597	chr14:38425604-38425605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147402931	chr14:38425627-38425628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182604985	chr14:38425628-38425629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139624202	chr14:38425638-38425639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557079828	chr14:38425643-38425644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377175193	chr14:38425644-38425645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539564865	chr14:38425648-38425649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113788330	chr14:38425657-38425658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553402921	chr14:38425664-38425665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8014896	chr14:38425665-38425666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555985687	chr14:38425735-38425736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539616440	chr14:38425738-38425739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559483005	chr14:38425740-38425741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187313624	chr14:38425754-38425755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6571831	chr14:38425763-38425764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs8015486	chr14:38425801-38425802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540318269	chr14:38425836-38425837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539828127	chr14:38425863-38425864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559849708	chr14:38425883-38425884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8016555	chr14:38425907-38425908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548813004	chr14:38425919-38425920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568665414	chr14:38425921-38425922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543963166	chr14:38425934-38425935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75165272	chr14:38425977-38425978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533196516	chr14:38426006-38426007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192137087	chr14:38426048-38426049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147016095	chr14:38426059-38426060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570778369	chr14:38426065-38426066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539849425	chr14:38426072-38426073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546659183	chr14:38426094-38426095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184540698	chr14:38426100-38426101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543878957	chr14:38426146-38426147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374121157	chr14:38426164-38426165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142873010	chr14:38426175-38426176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38425400-38425600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:38425600-38426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:38426600-38427200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:38436600-38436800	Enhancers	Pancreas	Pancrea
5	chr14:38436800-38437600	Weak transcription	Pancreas	Pancrea
6	chr14:38437400-38437600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:38437400-38440600	Enhancers	Fetal Intestine Large	intestine
8	chr14:38437400-38440600	Enhancers	Stomach Mucosa	stomach
9	chr14:38437600-38437800	Enhancers	Pancreas	Pancrea
10	chr14:38437600-38438000	Enhancers	Fetal Intestine Small	intestine
11	chr14:38437600-38438200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:38437600-38439800	Enhancers	Dnd41	blood
13	chr14:38437800-38438600	Weak transcription	Pancreas	Pancrea
14	chr14:38438000-38438400	Weak transcription	Fetal Intestine Small	intestine
15	chr14:38438200-38438800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr14:38438400-38440600	Enhancers	Fetal Intestine Small	intestine
17	chr14:38438600-38439000	Enhancers	Fetal Thymus	thymus
18	chr14:38438600-38439200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:38438600-38439200	Enhancers	Pancreas	Pancrea
20	chr14:38438600-38439600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:38438600-38439600	Enhancers	Duodenum Mucosa	Duodenum

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