Variant report

Variant	esv3523428
Chromosome Location	chr14:79980449-79982997
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..79880179-chr14:79981324..79981914,2	MCF-7	breast:
2	chr14:79879666..79880608-chr14:79981324..79981922,3	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571819937	chr14:79980473-79980474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571528923	chr14:79980502-79980503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199865431	chr14:79980503-79980504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537286048	chr14:79980513-79980514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557423810	chr14:79980524-79980525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199557945	chr14:79980530-79980531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10709465	chr14:79980532-79980533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs398077906	chr14:79980536-79980537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371175588	chr14:79980538-79980539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73341451	chr14:79980553-79980554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542955070	chr14:79980589-79980590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536212293	chr14:79980625-79980626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561017132	chr14:79980639-79980640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139060044	chr14:79980650-79980651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544912407	chr14:79980655-79980656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565637858	chr14:79980661-79980662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558466228	chr14:79980740-79980741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575395622	chr14:79980772-79980773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372138205	chr14:79980835-79980836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114875070	chr14:79980853-79980854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59206596	chr14:79980854-79980855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188428267	chr14:79980876-79980877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560190811	chr14:79980885-79980886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528751313	chr14:79980895-79980896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552093180	chr14:79980922-79980923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565486707	chr14:79980947-79980948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114586658	chr14:79980959-79980960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550926461	chr14:79980971-79980972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142452993	chr14:79981003-79981004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529996563	chr14:79981004-79981005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145977651	chr14:79981014-79981015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376847705	chr14:79981038-79981039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546549714	chr14:79981101-79981102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566519507	chr14:79981111-79981112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140120966	chr14:79981117-79981118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558795823	chr14:79981175-79981176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115040285	chr14:79981190-79981191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540570479	chr14:79981192-79981193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191729599	chr14:79981215-79981216	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574536047	chr14:79981219-79981220	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs547455198	chr14:79981227-79981228	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185052386	chr14:79981228-79981229	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560329424	chr14:79981229-79981230	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576903701	chr14:79981233-79981234	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189986873	chr14:79981260-79981261	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs10483923	chr14:79981262-79981263	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs59471787	chr14:79981335-79981336	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551107937	chr14:79981348-79981349	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561333818	chr14:79981383-79981384	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs5809938	chr14:79981407-79981408	Enhancers Weak transcription Active TSS Flanking Active TSS	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
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

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79975000-79982200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:79977200-79981200	Weak transcription	Osteobl	bone
3	chr14:79977400-79980800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:79977400-79981200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:79977600-79980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:79977600-79980800	Weak transcription	NHEK	skin
7	chr14:79977600-79981000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:79977800-79980600	Weak transcription	NH-A	brain
9	chr14:79977800-79980800	Weak transcription	HSMM	muscle
10	chr14:79977800-79981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:79977800-79981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:79977800-79981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:79977800-79981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:79977800-79982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:79978000-79981000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:79978000-79981000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:79978000-79981000	Weak transcription	HSMMtube	muscle
18	chr14:79978000-79981000	Weak transcription	NHLF	lung
19	chr14:79979200-79982800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:79979600-79981000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:79979600-79983400	Enhancers	Brain Germinal Matrix	brain
22	chr14:79980200-79981200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:79980600-79980800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:79980600-79981400	Enhancers	NH-A	brain
25	chr14:79980600-79982400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:79980600-79982800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:79980600-79982800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:79980600-79983000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:79980800-79981200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr14:79980800-79982000	Enhancers	NHEK	skin
31	chr14:79980800-79982200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:79980800-79982400	Enhancers	HSMM	muscle
33	chr14:79981000-79981400	Enhancers	Fetal Stomach	stomach
34	chr14:79981000-79982000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:79981000-79982000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr14:79981000-79982000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:79981000-79982000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:79981000-79982000	Enhancers	HSMMtube	muscle
39	chr14:79981000-79982400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:79981000-79982400	Enhancers	Hela-S3	cervix
41	chr14:79981000-79982400	Enhancers	NHLF	lung
42	chr14:79981000-79982600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:79981000-79982600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr14:79981000-79982600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:79981000-79982800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:79981000-79982800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:79981000-79982800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:79981000-79983000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:79981000-79983200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:79981200-79981400	Enhancers	HUES48 Cell Line	embryonic stem cell

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