Variant report

Variant	esv3419757
Chromosome Location	chr14:41244802-41245900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57959808	chr14:41244829-41244830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201331562	chr14:41244853-41244854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558508924	chr14:41244857-41244858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572084147	chr14:41244869-41244870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541096470	chr14:41244873-41244874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540028391	chr14:41244878-41244879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534595614	chr14:41244891-41244892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558435231	chr14:41244904-41244905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576762060	chr14:41245085-41245086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61986192	chr14:41245107-41245108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183962984	chr14:41245145-41245146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2999925	chr14:41245150-41245151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139375361	chr14:41245152-41245153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188247882	chr14:41245153-41245154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559984427	chr14:41245190-41245191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572155869	chr14:41245215-41245216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181402060	chr14:41245249-41245250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373382180	chr14:41245296-41245297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376084546	chr14:41245306-41245307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57186993	chr14:41245309-41245310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117906960	chr14:41245310-41245311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113376622	chr14:41245312-41245313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201904025	chr14:41245314-41245315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191062012	chr14:41245320-41245321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71102125	chr14:41245324-41245325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9671288	chr14:41245325-41245326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201276657	chr14:41245333-41245334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185715161	chr14:41245397-41245398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8006087	chr14:41245436-41245437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150058846	chr14:41245468-41245469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543602357	chr14:41245502-41245503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563367134	chr14:41245521-41245522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147337646	chr14:41245581-41245582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574359165	chr14:41245660-41245661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2999924	chr14:41245678-41245679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2999923	chr14:41245688-41245689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141022367	chr14:41245714-41245715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144578803	chr14:41245740-41245741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551962423	chr14:41245788-41245789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190910926	chr14:41245804-41245805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201993373	chr14:41245805-41245806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532423435	chr14:41245810-41245811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8006684	chr14:41245852-41245853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574318875	chr14:41245864-41245865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576215639	chr14:41245872-41245873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2999922	chr14:41245899-41245900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41237600-41246400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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