Variant report

Variant	esv13030
Chromosome Location	chr14:80691137-80697781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:80693931-80693982	GM13976	blood:	n/a	n/a
2	CTCF	chr14:80693361-80693384	Kidney_OC	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:80697777-80697827	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:80697777-80697827	LNCaP	prostate:	n/a
3	chr14:80697777-80697827	BE2_C	brain:	n/a
4	chr14:80697777-80697827	U87	brain:	n/a
5	chr14:80697777-80697827	HCF	heart:	n/a
6	chr14:80697777-80697827	NT2-D1	testis:	n/a
7	chr14:80697777-80697827	GM12891	blood:	n/a
8	chr14:80697777-80697827	NHBE	bronchial:	n/a
9	chr14:80697777-80697827	HAEpiC	amniotic membrane:	n/a
10	chr14:80697777-80697827	BJ	skin:	n/a
11	chr14:80697777-80697827	PANC-1	pancreas:	n/a
12	chr14:80697777-80697827	SK-N-SH	brain:	n/a
13	chr14:80697777-80697827	HRE	kidney:	n/a
14	chr14:80697777-80697827	GM06990	blood:	n/a
15	chr14:80697777-80697827	Jurkat	blood:	n/a
16	chr14:80697777-80697827	T-47D	breast:	n/a
17	chr14:80697777-80697827	HRPEpiC	eye:	n/a
18	chr14:80697777-80697827	H1-hESC	embryonic stem cell:	embryo
19	chr14:80697777-80697827	MCF-7	breast:	n/a
20	chr14:80697777-80697827	NH-A	brain:	n/a
21	chr14:80697777-80697827	HCPEpiC	choroid plexus:	n/a
22	chr14:80697777-80697827	HRCEpiC	kidney:	n/a
23	chr14:80697777-80697827	SKMC	muscle:	n/a
24	chr14:80697777-80697827	AoSMC	blood vessel:	n/a
25	chr14:80697777-80697827	AG09309	skin:	n/a
26	chr14:80697777-80697827	Hepatocyte	liver:	n/a
27	chr14:80697777-80697827	HIPEpiC	eye:	n/a
28	chr14:80697777-80697827	GM19239	blood:	n/a
29	chr14:80697777-80697827	MCF10A-Er-Src	breast:	n/a
30	chr14:80697777-80697827	HEEpiC	esophagus:	n/a
31	chr14:80697777-80697827	AG04450	lung:	fetal
32	chr14:80697777-80697827	AG04449	skin:	fetal
33	chr14:80697777-80697827	K562	blood:	n/a
34	chr14:80697777-80697827	ovcar-3	ovarian:	n/a
35	chr14:80697777-80697827	Hela-S3	cervix:	n/a
36	chr14:80697777-80697827	HCT-116	colon:	n/a
37	chr14:80697777-80697827	ECC-1	luminal epithelium:	n/a
38	chr14:80697777-80697827	CMK	blood:	n/a
39	chr14:80697777-80697827	HL-60	blood:	n/a
40	chr14:80697777-80697827	HNPCEpiC	eye:	n/a
41	chr14:80697777-80697827	RPTEC	kidney:	n/a
42	chr14:80697777-80697827	HCM	heart:	n/a
43	chr14:80697777-80697827	PrEC	prostate:	n/a
44	chr14:80697777-80697827	ProgFib	skin:	n/a
45	chr14:80697777-80697827	NB4	blood:	n/a
46	chr14:80697777-80697827	SK-N-MC	brain:	n/a
47	chr14:80697777-80697827	A549	lung:	n/a
48	chr14:80697777-80697827	IMR90	lung:	fetal
49	chr14:80697777-80697827	HUVEC	blood vessel:	n/a
50	chr14:80697777-80697827	HMEC	breast:	n/a

No data

Variant related genes	Relation type
DIO2	TF binding region
DIO2	CpG island

Extended variants
information (count: 91 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8015989	chr14:80691146-80691147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117043662	chr14:80691147-80691148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533696554	chr14:80693425-80693426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs116178577	chr14:80693452-80693453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371205072	chr14:80693520-80693521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539085991	chr14:80693524-80693525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs556103930	chr14:80693563-80693564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs181363619	chr14:80693597-80693598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4903905	chr14:80693699-80693700	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561513639	chr14:80693710-80693711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7145584	chr14:80693751-80693752	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185707383	chr14:80693800-80693801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560582530	chr14:80693810-80693811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532622396	chr14:80693860-80693861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141280131	chr14:80693871-80693872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562882823	chr14:80693942-80693943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531545689	chr14:80693947-80693948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534902075	chr14:80694029-80694030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551660406	chr14:80694102-80694103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116574888	chr14:80694103-80694104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4899766	chr14:80694131-80694132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370761416	chr14:80694179-80694180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112911546	chr14:80694202-80694203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188901693	chr14:80694212-80694213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137973850	chr14:80694218-80694219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570243526	chr14:80694248-80694249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539505883	chr14:80694252-80694253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555927180	chr14:80694253-80694254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575987361	chr14:80694311-80694312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535060851	chr14:80694338-80694339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555310472	chr14:80694355-80694356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575150110	chr14:80694358-80694359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540849236	chr14:80694394-80694395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181639226	chr14:80694405-80694406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577298750	chr14:80694436-80694437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546267060	chr14:80694463-80694464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140827318	chr14:80694470-80694471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531743498	chr14:80694515-80694516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541826144	chr14:80694520-80694521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150177415	chr14:80694544-80694545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138634895	chr14:80694568-80694569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186334207	chr14:80694578-80694579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192197838	chr14:80694588-80694589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184037515	chr14:80694630-80694631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149251866	chr14:80694815-80694816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115906974	chr14:80694923-80694924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369293653	chr14:80695092-80695093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534317477	chr14:80695111-80695112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535446905	chr14:80695113-80695114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557812903	chr14:80695127-80695128	Weak transcription	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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80688000-80691200	Enhancers	Hela-S3	cervix
2	chr14:80693400-80693800	ZNF genes & repeats	Esophagus	oesophagus
3	chr14:80693800-80696200	Weak transcription	Esophagus	oesophagus
4	chr14:80696200-80696600	Active TSS	Esophagus	oesophagus

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