Variant report

Variant	esv3446042
Chromosome Location	chr14:41017251-41044196
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	chr14:41022386..41024582-chr14:41027316..41029849,2	K562	blood:
2	chr14:41022386..41024582-chr14:41027316..41029849,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561637535	chr14:41042403-41042404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530297258	chr14:41042404-41042405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528413221	chr14:41042408-41042409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190627052	chr14:41042422-41042423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532687033	chr14:41042474-41042475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552694818	chr14:41042475-41042476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183286685	chr14:41042481-41042482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12589918	chr14:41042485-41042486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548246409	chr14:41042494-41042495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568357578	chr14:41042519-41042520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536918132	chr14:41042586-41042587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74495267	chr14:41042606-41042607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35879367	chr14:41042617-41042618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187970742	chr14:41042695-41042696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1959227	chr14:41042723-41042724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9783657	chr14:41042772-41042773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571082613	chr14:41042775-41042776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190657146	chr14:41042810-41042811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541826919	chr14:41042817-41042818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117333722	chr14:41042824-41042825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199542010	chr14:41042829-41042830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147602353	chr14:41042834-41042835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59302270	chr14:41042835-41042836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575239811	chr14:41042839-41042840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544112770	chr14:41042843-41042844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12891252	chr14:41042946-41042947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79423658	chr14:41042957-41042958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556944059	chr14:41042971-41042972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72676192	chr14:41042994-41042995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9783668	chr14:41043002-41043003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1959226	chr14:41043011-41043012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560070259	chr14:41043093-41043094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182831586	chr14:41043101-41043102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548584387	chr14:41043125-41043126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187861502	chr14:41043155-41043156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530745455	chr14:41043169-41043170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9783624	chr14:41043171-41043172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9783671	chr14:41043181-41043182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs367793430	chr14:41043254-41043255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192587064	chr14:41043272-41043273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552860043	chr14:41043277-41043278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185414847	chr14:41043283-41043284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187895873	chr14:41043297-41043298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138617722	chr14:41043317-41043318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61988642	chr14:41043327-41043328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537787192	chr14:41043430-41043431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5808094	chr14:41043460-41043461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398077714	chr14:41043468-41043469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397755300	chr14:41043469-41043470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551073420	chr14:41043473-41043474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41042400-41042600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:41042400-41042600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:41042600-41046200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:41042800-41043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:41043800-41044400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:41043800-41044400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:41043800-41044400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:41044000-41044200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:41044000-41044400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr14:41044000-41044400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:41044000-41044600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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