Variant report

Variant	esv3421223
Chromosome Location	chr14:72008599-72012997
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	chr14:71785895..71788432-chr14:72008692..72011140,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197555	chromatin interactions

Extended variants
information (count: 288 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577604637	chr14:72008668-72008669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111816215	chr14:72008675-72008676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544966848	chr14:72008696-72008697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563649351	chr14:72008710-72008711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530722792	chr14:72008728-72008729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542808474	chr14:72008736-72008737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368278566	chr14:72008740-72008741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190207414	chr14:72008798-72008799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141613399	chr14:72008863-72008864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565925483	chr14:72008907-72008908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533409765	chr14:72008919-72008920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373488843	chr14:72008957-72008958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370482474	chr14:72008958-72008959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536583206	chr14:72008974-72008975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188155724	chr14:72008976-72008977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192756103	chr14:72008984-72008985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147978297	chr14:72008986-72008987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573213486	chr14:72008998-72008999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527397777	chr14:72009020-72009021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111978425	chr14:72009024-72009025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570368064	chr14:72009029-72009030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371639294	chr14:72009054-72009055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549342591	chr14:72009070-72009071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570289492	chr14:72009071-72009072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71105785	chr14:72009073-72009074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371025054	chr14:72009082-72009083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142934736	chr14:72009084-72009085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199830053	chr14:72009085-72009086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs58791623	chr14:72009087-72009088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111323413	chr14:72009088-72009089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201661049	chr14:72009113-72009114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577716173	chr14:72009164-72009165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545184888	chr14:72009167-72009168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577245408	chr14:72009171-72009172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199952185	chr14:72009175-72009176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200787856	chr14:72009188-72009189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35415083	chr14:72009196-72009197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145932383	chr14:72009199-72009200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371165580	chr14:72009208-72009209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111068010	chr14:72009210-72009211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12880250	chr14:72009221-72009222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552693929	chr14:72009222-72009223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575591890	chr14:72009233-72009234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542969961	chr14:72009285-72009286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375242144	chr14:72009300-72009301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560838150	chr14:72009329-72009330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141999588	chr14:72009383-72009384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201972629	chr14:72009413-72009414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147003051	chr14:72009422-72009423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546334024	chr14:72009446-72009447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71978400-72009400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:71978400-72014800	Weak transcription	HMEC	breast
3	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
4	chr14:71981400-72021400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:71997000-72009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:71997800-72017600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:71998400-72008600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:72001400-72009800	Enhancers	Fetal Heart	heart
9	chr14:72002400-72009200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:72002800-72008600	Enhancers	Fetal Stomach	stomach
11	chr14:72003000-72017800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:72003800-72009400	Weak transcription	HSMM	muscle
13	chr14:72005800-72008600	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:72006400-72009400	Enhancers	Spleen	Spleen
15	chr14:72006600-72019400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:72006600-72021800	Weak transcription	Small Intestine	intestine
17	chr14:72007000-72009000	Enhancers	Fetal Lung	lung
18	chr14:72007000-72011200	Weak transcription	Right Ventricle	heart
19	chr14:72007200-72019600	Weak transcription	Primary B cells from cord blood	blood
20	chr14:72007200-72020200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:72007200-72021800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:72007400-72008600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:72007400-72018200	Weak transcription	NHLF	lung
24	chr14:72007400-72020400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:72007600-72008600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:72007600-72009800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:72007600-72010000	Weak transcription	Brain Anterior Caudate	brain
28	chr14:72007600-72012200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:72007600-72017400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:72007600-72017400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:72007800-72008600	Enhancers	HUVEC	blood vessel
32	chr14:72007800-72008800	Weak transcription	Right Atrium	heart
33	chr14:72007800-72009800	Weak transcription	NHDF-Ad	bronchial
34	chr14:72007800-72016800	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:72007800-72017200	Weak transcription	Osteobl	bone
36	chr14:72008400-72008600	Enhancers	GM12878-XiMat	blood
37	chr14:72008400-72009200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:72008400-72009200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:72008400-72009800	Enhancers	Primary T cells from cord blood	blood
40	chr14:72008400-72017600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:72008400-72018200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:72008400-72018400	Weak transcription	Left Ventricle	heart
43	chr14:72008600-72008800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:72008600-72008800	Enhancers	Adipose Nuclei	Adipose
45	chr14:72008600-72008800	Enhancers	Brain Germinal Matrix	brain
46	chr14:72008600-72008800	Enhancers	Fetal Kidney	kidney
47	chr14:72008600-72008800	Weak transcription	GM12878-XiMat	blood
48	chr14:72008600-72009800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:72008800-72009000	Enhancers	Right Atrium	heart
50	chr14:72008800-72009000	Enhancers	GM12878-XiMat	blood

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