Variant report

Variant	esv3404125
Chromosome Location	chr14:42008252-42009750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561361329	chr14:42008292-42008293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528889984	chr14:42008318-42008319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79298937	chr14:42008353-42008354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149409503	chr14:42008381-42008382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79206684	chr14:42008408-42008409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374310304	chr14:42008453-42008454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79983050	chr14:42008538-42008539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574708738	chr14:42008540-42008541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71440739	chr14:42008541-42008542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554882979	chr14:42008561-42008562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58568799	chr14:42008562-42008563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56955006	chr14:42008563-42008564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368900193	chr14:42008565-42008566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368425067	chr14:42008581-42008582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559562929	chr14:42008583-42008584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370809164	chr14:42008584-42008585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372199421	chr14:42008633-42008634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374378246	chr14:42008636-42008637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367559385	chr14:42008637-42008638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371319672	chr14:42008645-42008646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369244443	chr14:42008647-42008648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373482921	chr14:42008648-42008649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375039191	chr14:42008665-42008666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369192808	chr14:42008667-42008668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372504542	chr14:42008668-42008669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375445341	chr14:42008675-42008676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112678592	chr14:42008682-42008683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377640708	chr14:42008707-42008708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34659694	chr14:42008713-42008714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370855784	chr14:42008726-42008727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375675736	chr14:42008738-42008739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370112831	chr14:42008739-42008740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12147512	chr14:42008751-42008752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190574697	chr14:42008783-42008784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183329062	chr14:42008801-42008802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187654164	chr14:42008894-42008895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377706652	chr14:42008932-42008933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191965312	chr14:42008983-42008984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567643926	chr14:42009007-42009008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183872862	chr14:42009029-42009030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549099095	chr14:42009083-42009084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553381769	chr14:42009088-42009089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578202957	chr14:42009165-42009166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545225013	chr14:42009166-42009167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557152622	chr14:42009208-42009209	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186831916	chr14:42009221-42009222	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs367806914	chr14:42009222-42009223	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543097179	chr14:42009254-42009255	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139762593	chr14:42009266-42009267	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs61990271	chr14:42009271-42009272	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41994600-42009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:41995000-42009200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:42009200-42009800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:42009400-42009600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:42009400-42009600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr14:42009400-42009600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:42009600-42009800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:42009600-42016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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