Variant report

Variant	esv3516108
Chromosome Location	chr14:42987468-42992982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568583235	chr14:42987476-42987477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536113401	chr14:42987481-42987482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547810871	chr14:42987491-42987492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542052260	chr14:42987524-42987525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114160160	chr14:42987565-42987566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185744426	chr14:42987618-42987619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576085720	chr14:42987639-42987640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537149508	chr14:42987691-42987692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140765486	chr14:42987698-42987699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149684888	chr14:42987711-42987712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574559662	chr14:42987724-42987725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78258228	chr14:42987731-42987732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560238304	chr14:42987736-42987737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572000996	chr14:42987782-42987783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545777246	chr14:42987784-42987785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570650510	chr14:42987812-42987813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12879582	chr14:42987866-42987867	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533072740	chr14:42987901-42987902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72680444	chr14:42987960-42987961	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549918850	chr14:42987983-42987984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562293151	chr14:42988000-42988001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115130629	chr14:42988009-42988010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548065562	chr14:42988017-42988018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76425345	chr14:42988034-42988035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190559268	chr14:42988160-42988161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145897695	chr14:42988202-42988203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569734511	chr14:42988272-42988273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537110778	chr14:42988325-42988326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12884459	chr14:42988346-42988347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138478630	chr14:42988367-42988368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535334153	chr14:42988387-42988388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549121609	chr14:42988409-42988410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553944811	chr14:42988431-42988432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78464557	chr14:42988489-42988490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183000738	chr14:42988529-42988530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557753025	chr14:42988549-42988550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188173605	chr14:42988578-42988579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59863336	chr14:42988620-42988621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538034418	chr14:42988675-42988676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558476595	chr14:42988690-42988691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553237220	chr14:42988731-42988732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143231320	chr14:42988736-42988737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561678584	chr14:42988771-42988772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112645693	chr14:42988786-42988787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559899942	chr14:42988795-42988796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533416582	chr14:42988816-42988817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2415750	chr14:42988819-42988820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569697431	chr14:42988872-42988873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148332732	chr14:42988891-42988892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1499386	chr14:42988895-42988896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42984200-42987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:42987200-42987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:42987200-42987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:42987200-42987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:42987600-42992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:42987800-42988000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr14:42988000-42991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:42992200-42994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:42992800-42993200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:42992800-42993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:42992800-42993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:42992800-42993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:42992800-42993200	Enhancers	Brain Anterior Caudate	brain
14	chr14:42992800-42993400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:42992800-42993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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