Variant report

Variant	esv2761828
Chromosome Location	chr14:42836975-42855717
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	chr14:42854900..42857464-chr14:42857634..42860608,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs992355	chr14:42847609-42847610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1351793	chr14:42847610-42847611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200354977	chr14:42847616-42847617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559613299	chr14:42847645-42847646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533494838	chr14:42847697-42847698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73316682	chr14:42847751-42847752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs137919962	chr14:42847771-42847772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76945887	chr14:42847772-42847773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549665468	chr14:42847777-42847778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141356434	chr14:42847834-42847835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567674574	chr14:42847883-42847884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73316683	chr14:42847884-42847885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536419276	chr14:42847912-42847913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547399990	chr14:42847920-42847921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183399469	chr14:42847960-42847961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565625946	chr14:42847964-42847965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556198914	chr14:42847983-42847984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576318572	chr14:42848036-42848037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145082459	chr14:42848065-42848066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544952418	chr14:42848078-42848079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117162159	chr14:42848085-42848086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570268092	chr14:42848097-42848098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112786934	chr14:42848137-42848138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556110759	chr14:42848147-42848148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574054752	chr14:42848148-42848149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188855647	chr14:42848184-42848185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2086795	chr14:42848201-42848202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192642255	chr14:42848216-42848217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545528430	chr14:42848229-42848230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs118105188	chr14:42848233-42848234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs35029200	chr14:42848284-42848285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2101245	chr14:42848285-42848286	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs77855637	chr14:42848287-42848288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529224335	chr14:42848292-42848293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144695622	chr14:42848299-42848300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148080859	chr14:42848318-42848319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543525339	chr14:42848343-42848344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143804358	chr14:42848374-42848375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551465760	chr14:42848412-42848413	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183415654	chr14:42848414-42848415	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113583503	chr14:42848436-42848437	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556024473	chr14:42848465-42848466	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs74049709	chr14:42848485-42848486	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140773018	chr14:42848514-42848515	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553088865	chr14:42848532-42848533	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs74049710	chr14:42848575-42848576	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2626834	chr14:42848609-42848610	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186671950	chr14:42848659-42848660	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs2626418	chr14:42848673-42848674	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543199769	chr14:42848678-42848679	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42847600-42848200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:42848200-42848400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
3	chr14:42848200-42848800	ZNF genes & repeats	Pancreas	Pancrea
4	chr14:42848400-42848800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:42848400-42848800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:42848400-42848800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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