Variant report

Variant	esv3388431
Chromosome Location	chr14:72761049-72762997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72758845..72761499-chr14:72887079..72888301,15	MCF-7	breast:
2	chr14:72398262..72400525-chr14:72758927..72761647,3	MCF-7	breast:
3	chr14:72760434..72761186-chr14:72883286..72884169,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182732	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533542891	chr14:72761049-72761050	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188557771	chr14:72761084-72761085	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2239254	chr14:72761151-72761152	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537378687	chr14:72761178-72761179	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555341871	chr14:72761182-72761183	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112336582	chr14:72761237-72761238	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541729099	chr14:72761290-72761291	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567365811	chr14:72761297-72761298	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1476701	chr14:72761326-72761327	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142500935	chr14:72761345-72761346	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376899754	chr14:72761384-72761385	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545170579	chr14:72761414-72761415	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556904579	chr14:72761455-72761456	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1000453	chr14:72761489-72761490	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs847336	chr14:72761492-72761493	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542984423	chr14:72761507-72761508	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561176956	chr14:72761513-72761514	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1981604	chr14:72761549-72761550	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs376538164	chr14:72761556-72761557	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191665962	chr14:72761564-72761565	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564960914	chr14:72761610-72761611	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532143801	chr14:72761628-72761629	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184468963	chr14:72761632-72761633	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139860552	chr14:72761638-72761639	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114502737	chr14:72761658-72761659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs117587294	chr14:72761662-72761663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189915166	chr14:72761721-72761722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534662939	chr14:72761725-72761726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553125649	chr14:72761726-72761727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558817639	chr14:72761749-72761750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571691424	chr14:72761766-72761767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538802798	chr14:72761770-72761771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs146726847	chr14:72761774-72761775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575469771	chr14:72761795-72761796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542847390	chr14:72761801-72761802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554876526	chr14:72761834-72761835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573191650	chr14:72761836-72761837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs543840265	chr14:72761843-72761844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs368464815	chr14:72761847-72761848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs3861685	chr14:72761871-72761872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531105015	chr14:72761887-72761888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs847335	chr14:72761911-72761912	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376175177	chr14:72761930-72761931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544019146	chr14:72761956-72761957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs367557004	chr14:72761986-72761987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562614687	chr14:72761994-72761995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs376651141	chr14:72761998-72761999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs67921203	chr14:72761999-72762000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs398043831	chr14:72762014-72762015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371621211	chr14:72762015-72762016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72760400-72763400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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