Variant report

Variant	esv1807999
Chromosome Location	chr14:79971835-79981954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79879666..79880608-chr14:79981324..79981922,3	MCF-7	breast:
2	chr14:79879666..79880179-chr14:79981324..79981914,2	MCF-7	breast:

Extended variants
information (count: 391 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:391 , 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	rs7150181	chr14:79971835-79971836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10134623	chr14:79971841-79971842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192718069	chr14:79971888-79971889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557557492	chr14:79971895-79971896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184389708	chr14:79971911-79971912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187497157	chr14:79971948-79971949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138816373	chr14:79971981-79971982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556556841	chr14:79972022-79972023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372077624	chr14:79972029-79972030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34832494	chr14:79972050-79972051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34535714	chr14:79972053-79972054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542163908	chr14:79972121-79972122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539305252	chr14:79972137-79972138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141463663	chr14:79972147-79972148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572540024	chr14:79972174-79972175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541658503	chr14:79972205-79972206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564549919	chr14:79972249-79972250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558530074	chr14:79972271-79972272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570557278	chr14:79972272-79972273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537838180	chr14:79972275-79972276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556272892	chr14:79972298-79972299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543804949	chr14:79972315-79972316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59809006	chr14:79972321-79972322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150863622	chr14:79972336-79972337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549014982	chr14:79972383-79972384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566003139	chr14:79972427-79972428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528268490	chr14:79972431-79972432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192339825	chr14:79972482-79972483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202204370	chr14:79972489-79972490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569070222	chr14:79972620-79972621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35461192	chr14:79972635-79972636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138576305	chr14:79972652-79972653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536773926	chr14:79972672-79972673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149306463	chr14:79972673-79972674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566935368	chr14:79972676-79972677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536285878	chr14:79972793-79972794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555782701	chr14:79972815-79972816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553135412	chr14:79972887-79972888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17109321	chr14:79972896-79972897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535692319	chr14:79972936-79972937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201726525	chr14:79973010-79973011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201281718	chr14:79973011-79973012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61504574	chr14:79973017-79973018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147409384	chr14:79973082-79973083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139738262	chr14:79973098-79973099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145298980	chr14:79973149-79973150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373866183	chr14:79973157-79973158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543053058	chr14:79973167-79973168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572659869	chr14:79973216-79973217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559362314	chr14:79973228-79973229	Weak transcription	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79966000-79976400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:79975000-79982200	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:79975800-79976800	Weak transcription	Brain Germinal Matrix	brain
4	chr14:79976400-79977400	Enhancers	Stomach Smooth Muscle	stomach
5	chr14:79976400-79977600	Enhancers	NHEK	skin
6	chr14:79976400-79977800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:79976600-79976800	Enhancers	HSMMtube	muscle
8	chr14:79976600-79977400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:79976600-79977600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:79976600-79977800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:79976600-79977800	Enhancers	HSMM	muscle
12	chr14:79976600-79977800	Enhancers	NH-A	brain
13	chr14:79976600-79978000	Enhancers	NHLF	lung
14	chr14:79976800-79977000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:79976800-79977200	Flanking Active TSS	HSMMtube	muscle
16	chr14:79976800-79977200	Enhancers	Osteobl	bone
17	chr14:79976800-79977600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:79976800-79977800	Enhancers	Brain Germinal Matrix	brain
19	chr14:79977000-79977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:79977000-79977800	Enhancers	Fetal Muscle Leg	muscle
21	chr14:79977200-79977600	Enhancers	Fetal Lung	lung
22	chr14:79977200-79977800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:79977200-79977800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:79977200-79977800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:79977200-79978000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:79977200-79978000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:79977200-79978000	Enhancers	HSMMtube	muscle
28	chr14:79977200-79981200	Weak transcription	Osteobl	bone
29	chr14:79977400-79977600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr14:79977400-79977800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:79977400-79980800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:79977400-79981200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:79977600-79979200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:79977600-79980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:79977600-79980800	Weak transcription	NHEK	skin
36	chr14:79977600-79981000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:79977800-79979200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:79977800-79979600	Weak transcription	Brain Germinal Matrix	brain
39	chr14:79977800-79980600	Weak transcription	NH-A	brain
40	chr14:79977800-79980800	Weak transcription	HSMM	muscle
41	chr14:79977800-79981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:79977800-79981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:79977800-79981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:79977800-79981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:79977800-79982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:79978000-79981000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:79978000-79981000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:79978000-79981000	Weak transcription	HSMMtube	muscle
49	chr14:79978000-79981000	Weak transcription	NHLF	lung
50	chr14:79979200-79979600	Enhancers	Duodenum Smooth Muscle	Duodenum

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