Variant report

Variant	esv3527907
Chromosome Location	chr14:32262966-32267373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr14:32267221-32267511	K562	blood:	n/a	n/a
2	MAFK	chr14:32267274-32267518	K562	blood:	n/a	chr14:32267353-32267363 chr14:32267353-32267362
3	SPI1	chr14:32264766-32264902	K562	blood:	n/a	n/a
4	SPI1	chr14:32264821-32264891	K562	blood:	n/a	n/a

Variant related genes	Relation type
NUBPL	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114623430	chr14:32262968-32262969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116457329	chr14:32262970-32262971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558689974	chr14:32263034-32263035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55698198	chr14:32263046-32263047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145262451	chr14:32263047-32263048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12885032	chr14:32263051-32263052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12589253	chr14:32263059-32263060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553139134	chr14:32263122-32263123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189270927	chr14:32263148-32263149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12589330	chr14:32263152-32263153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111525729	chr14:32263182-32263183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368810233	chr14:32263326-32263327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372444252	chr14:32263327-32263328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376704186	chr14:32263336-32263337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369706372	chr14:32263351-32263352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373579171	chr14:32263381-32263382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377626648	chr14:32263386-32263387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369256335	chr14:32263402-32263403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373537891	chr14:32263436-32263437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55712609	chr14:32263485-32263486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56065158	chr14:32263530-32263531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370357644	chr14:32263572-32263573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374698946	chr14:32263622-32263623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567977769	chr14:32263675-32263676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377460367	chr14:32263693-32263694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371008053	chr14:32263703-32263704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374326799	chr14:32263742-32263743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368218480	chr14:32263800-32263801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371632581	chr14:32263861-32263862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374008799	chr14:32263862-32263863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367865743	chr14:32263868-32263869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371755762	chr14:32263878-32263879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34768170	chr14:32263902-32263903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375941715	chr14:32263928-32263929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370158757	chr14:32263934-32263935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372201444	chr14:32263949-32263950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377100922	chr14:32263965-32263966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369433053	chr14:32263994-32263995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373933789	chr14:32264014-32264015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554631196	chr14:32264035-32264036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61994407	chr14:32264527-32264528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61994408	chr14:32264546-32264547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61994409	chr14:32264597-32264598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576539790	chr14:32264663-32264664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544125198	chr14:32264667-32264668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9743920	chr14:32264796-32264797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201544930	chr14:32264986-32264987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61994411	chr14:32265103-32265104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543787519	chr14:32265108-32265109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61994412	chr14:32265149-32265150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32222600-32270200	Weak transcription	Aorta	Aorta
2	chr14:32244400-32270200	Weak transcription	Ovary	ovary
3	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:32250800-32270200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr14:32251200-32272600	Weak transcription	Primary T cells from cord blood	blood
6	chr14:32252600-32268000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:32257600-32272200	Weak transcription	Pancreas	Pancrea
8	chr14:32257600-32281200	Weak transcription	HepG2	liver
9	chr14:32258000-32270600	Weak transcription	Gastric	stomach
10	chr14:32258200-32267200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:32261200-32268400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:32261400-32263000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:32262000-32263000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:32263000-32287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:32266800-32281000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:32267200-32267600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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