Variant report

Variant	esv3530283
Chromosome Location	chr14:79981056-79982097
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: 39 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546549714	chr14:79981101-79981102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566519507	chr14:79981111-79981112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140120966	chr14:79981117-79981118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558795823	chr14:79981175-79981176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115040285	chr14:79981190-79981191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540570479	chr14:79981192-79981193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191729599	chr14:79981215-79981216	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574536047	chr14:79981219-79981220	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547455198	chr14:79981227-79981228	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185052386	chr14:79981228-79981229	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560329424	chr14:79981229-79981230	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576903701	chr14:79981233-79981234	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189986873	chr14:79981260-79981261	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs10483923	chr14:79981262-79981263	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs59471787	chr14:79981335-79981336	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551107937	chr14:79981348-79981349	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561333818	chr14:79981383-79981384	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs5809938	chr14:79981407-79981408	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530271270	chr14:79981409-79981410	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs182105271	chr14:79981492-79981493	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75944569	chr14:79981527-79981528	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs72690763	chr14:79981553-79981554	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538633950	chr14:79981636-79981637	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs61995182	chr14:79981701-79981702	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570306287	chr14:79981747-79981748	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376251743	chr14:79981752-79981753	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573559142	chr14:79981754-79981755	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs552306219	chr14:79981848-79981849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185497508	chr14:79981856-79981857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144824917	chr14:79981911-79981912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537750927	chr14:79981924-79981925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554705947	chr14:79981929-79981930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367781525	chr14:79981953-79981954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574673077	chr14:79981961-79981962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143764209	chr14:79981965-79981966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556058727	chr14:79982010-79982011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17109338	chr14:79982034-79982035	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189528524	chr14:79982072-79982073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534629536	chr14:79982083-79982084	Enhancers 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
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:60 , 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	chr14:79977400-79981200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:79977800-79981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:79977800-79981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:79977800-79982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:79979200-79982800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:79979600-79983400	Enhancers	Brain Germinal Matrix	brain
9	chr14:79980200-79981200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:79980600-79981400	Enhancers	NH-A	brain
11	chr14:79980600-79982400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:79980600-79982800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:79980600-79982800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:79980600-79983000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:79980800-79981200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:79980800-79982000	Enhancers	NHEK	skin
17	chr14:79980800-79982200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:79980800-79982400	Enhancers	HSMM	muscle
19	chr14:79981000-79981400	Enhancers	Fetal Stomach	stomach
20	chr14:79981000-79982000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:79981000-79982000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:79981000-79982000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:79981000-79982000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:79981000-79982000	Enhancers	HSMMtube	muscle
25	chr14:79981000-79982400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:79981000-79982400	Enhancers	Hela-S3	cervix
27	chr14:79981000-79982400	Enhancers	NHLF	lung
28	chr14:79981000-79982600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:79981000-79982600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr14:79981000-79982600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:79981000-79982800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:79981000-79982800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:79981000-79982800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:79981000-79983000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:79981000-79983200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:79981200-79981400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr14:79981200-79981400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr14:79981200-79981600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:79981200-79981800	Active TSS	A549	lung
40	chr14:79981200-79982000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:79981200-79982200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:79981200-79982400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:79981200-79982400	Enhancers	Osteobl	bone
44	chr14:79981200-79982800	Enhancers	Stomach Smooth Muscle	stomach
45	chr14:79981200-79985200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:79981400-79981600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr14:79981400-79981800	Enhancers	Aorta	Aorta
48	chr14:79981400-79981800	Flanking Active TSS	NH-A	brain
49	chr14:79981400-79982000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:79981400-79982000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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