Variant report

Variant	esv1834615
Chromosome Location	chr14:80098883-80114863
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	E2F4	chr14:80105479-80105655	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA2	chr14:80109590-80109954	HUVEC	blood vessel:	n/a	chr14:80109750-80109764
3	GATA3	chr14:80109659-80109855	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr14:80112058-80112796	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr14:80112079-80112860	H1-neurons	neurons:	n/a	n/a
6	REST	chr14:80112002-80112728	H1-neurons	neurons:	n/a	n/a
7	REST	chr14:80111826-80113026	H1-neurons	neurons:	n/a	chr14:80112790-80112810
8	ZNF263	chr14:80105913-80106397	HEK293-T-REx	kidney:	n/a	chr14:80106216-80106225 chr14:80106210-80106231

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIO2-3	chr14:80099631-80099654	ENSG00000259106.1

Variant related genes	Relation type
ENSG00000259106	TF binding region

Extended variants
information (count: 387 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs221483	chr14:80098883-80098884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532656376	chr14:80098907-80098908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546223600	chr14:80098962-80098963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115419161	chr14:80098988-80098989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4899748	chr14:80099020-80099021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35541821	chr14:80099040-80099041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80170917	chr14:80099067-80099068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573076137	chr14:80099093-80099094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186056005	chr14:80099145-80099146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189367774	chr14:80099193-80099194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs221482	chr14:80099246-80099247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs221481	chr14:80099276-80099277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs532352307	chr14:80099294-80099295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556188493	chr14:80099325-80099326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550832112	chr14:80099356-80099357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535307500	chr14:80099357-80099358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563567939	chr14:80099371-80099372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144352727	chr14:80099382-80099383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559463682	chr14:80099402-80099403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117362756	chr14:80099427-80099428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78486194	chr14:80099428-80099429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80133338	chr14:80099470-80099471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79628089	chr14:80099471-80099472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79853770	chr14:80099472-80099473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577219325	chr14:80099494-80099495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs221480	chr14:80099516-80099517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563052616	chr14:80099526-80099527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576554378	chr14:80099528-80099529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181191444	chr14:80099529-80099530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111317225	chr14:80099538-80099539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562306788	chr14:80099631-80099632	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs6574515	chr14:80099646-80099647	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538102024	chr14:80103855-80103856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554918324	chr14:80103878-80103879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574656840	chr14:80103884-80103885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72696779	chr14:80103904-80103905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185672133	chr14:80103910-80103911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576860349	chr14:80103935-80103936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145370755	chr14:80103963-80103964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530355084	chr14:80104225-80104226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149993426	chr14:80104239-80104240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs33941912	chr14:80104240-80104241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs221474	chr14:80104264-80104265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532605470	chr14:80104385-80104386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143415330	chr14:80104397-80104398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180932498	chr14:80104398-80104399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185597142	chr14:80104410-80104411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569199559	chr14:80104415-80104416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537873622	chr14:80104461-80104462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569472340	chr14:80104480-80104481	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80096600-80099600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:80103800-80104000	Enhancers	Gastric	stomach
3	chr14:80104200-80105400	Enhancers	Pancreas	Pancrea
4	chr14:80104400-80105000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr14:80104400-80105600	Enhancers	Fetal Brain Male	brain
6	chr14:80104600-80106000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:80105000-80105200	Enhancers	Stomach Smooth Muscle	stomach
8	chr14:80105000-80105400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr14:80105000-80105600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:80105000-80105600	Enhancers	Fetal Brain Female	brain
11	chr14:80105000-80105800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:80105000-80106400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr14:80105000-80108600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:80105200-80105800	Enhancers	HSMMtube	muscle
15	chr14:80105200-80106000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:80105400-80105600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:80105400-80106200	Weak transcription	Pancreas	Pancrea
18	chr14:80105600-80106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:80105600-80106000	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr14:80106000-80106200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:80106000-80106600	Enhancers	Stomach Smooth Muscle	stomach
22	chr14:80106000-80108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:80106000-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:80106200-80106400	Enhancers	Pancreas	Pancrea
25	chr14:80106200-80109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:80106400-80107800	Weak transcription	Pancreas	Pancrea
27	chr14:80106600-80112600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:80107800-80108000	Enhancers	Pancreas	Pancrea
29	chr14:80108000-80109000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr14:80108400-80110200	Enhancers	Dnd41	blood
31	chr14:80109200-80109800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:80109400-80110000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr14:80110000-80114600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:80110800-80111400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:80112600-80113200	Enhancers	Stomach Smooth Muscle	stomach
36	chr14:80112600-80113800	Enhancers	Adipose Nuclei	Adipose
37	chr14:80112800-80113200	Enhancers	Rectal Smooth Muscle	rectum
38	chr14:80113000-80113400	Enhancers	Colon Smooth Muscle	Colon
39	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:80113400-80114400	Weak transcription	Colon Smooth Muscle	Colon

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