Variant report

Variant	esv3438775
Chromosome Location	chr14:32261683-32265266
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	FOS	chr14:32262029-32262225	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr14:32264821-32264891	K562	blood:	n/a	n/a
3	SPI1	chr14:32264766-32264902	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32247374..32249738-chr14:32259732..32262061,2	MCF-7	breast:

Variant related genes	Relation type
NUBPL	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151280484	chr14:32261693-32261694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34795253	chr14:32261696-32261697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113514662	chr14:32261697-32261698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11156709	chr14:32261740-32261741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7157506	chr14:32261755-32261756	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530408034	chr14:32261773-32261774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542492604	chr14:32261777-32261778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187717217	chr14:32261817-32261818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114653588	chr14:32261866-32261867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532053054	chr14:32261871-32261872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368282879	chr14:32261916-32261917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550350590	chr14:32261948-32261949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192681835	chr14:32261974-32261975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145643283	chr14:32261983-32261984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184254898	chr14:32261985-32261986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189066610	chr14:32261994-32261995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565668681	chr14:32262171-32262172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535909987	chr14:32262172-32262173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554558824	chr14:32262208-32262209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374071748	chr14:32262238-32262239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569805547	chr14:32262261-32262262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563998766	chr14:32262274-32262275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570102965	chr14:32262296-32262297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117175902	chr14:32262320-32262321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181145643	chr14:32262452-32262453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368095350	chr14:32262474-32262475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576663183	chr14:32262498-32262499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545075117	chr14:32262500-32262501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552842378	chr14:32262536-32262537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554019336	chr14:32262569-32262570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537661209	chr14:32262585-32262586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75235504	chr14:32262603-32262604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561337226	chr14:32262624-32262625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147775191	chr14:32262632-32262633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544141624	chr14:32262658-32262659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565461909	chr14:32262673-32262674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141096450	chr14:32262709-32262710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547460954	chr14:32262734-32262735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143500739	chr14:32262747-32262748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184863465	chr14:32262780-32262781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147997571	chr14:32262823-32262824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569329888	chr14:32262867-32262868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536934604	chr14:32262868-32262869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79788584	chr14:32262875-32262876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558450573	chr14:32262890-32262891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114623430	chr14:32262968-32262969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116457329	chr14:32262970-32262971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558689974	chr14:32263034-32263035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55698198	chr14:32263046-32263047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145262451	chr14:32263047-32263048	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:17 , 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	chr14:32261600-32262800	Enhancers	NHEK	skin
14	chr14:32261800-32262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:32262000-32262800	Enhancers	HMEC	breast
16	chr14:32262000-32263000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:32263000-32287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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