Variant report

Variant	esv3375924
Chromosome Location	chr14:32919493-32920041
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	chr14:32912752..32915224-chr14:32918324..32920883,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554332854	chr14:32919505-32919506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575751379	chr14:32919512-32919513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113766291	chr14:32919516-32919517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6571517	chr14:32919531-32919532	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543264770	chr14:32919533-32919534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562725326	chr14:32919548-32919549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577854707	chr14:32919571-32919572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545332096	chr14:32919656-32919657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560852975	chr14:32919685-32919686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527655298	chr14:32919690-32919691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549380740	chr14:32919761-32919762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190428906	chr14:32919765-32919766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6571518	chr14:32919779-32919780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78425572	chr14:32919801-32919802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376659372	chr14:32919817-32919818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182613928	chr14:32919827-32919828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571463021	chr14:32919841-32919842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538837900	chr14:32919887-32919888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532958118	chr14:32919894-32919895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547334570	chr14:32919897-32919898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367948731	chr14:32919920-32919921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565980455	chr14:32919941-32919942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145528089	chr14:32919952-32919953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370177022	chr14:32919995-32919996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8013186	chr14:32920004-32920005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78093701	chr14:32920005-32920006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8013463	chr14:32920028-32920029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144645662	chr14:32920040-32920041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
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	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32908600-32920200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:32908600-32920200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:32909000-32923400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:32914400-32923000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:32916400-32920200	Enhancers	Colon Smooth Muscle	Colon
6	chr14:32916400-32921000	Enhancers	Brain Substantia Nigra	brain
7	chr14:32918800-32919600	Enhancers	Aorta	Aorta
8	chr14:32918800-32920800	Enhancers	Fetal Heart	heart
9	chr14:32919000-32919600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:32919000-32919800	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:32919000-32920800	Enhancers	Brain Angular Gyrus	brain
12	chr14:32919200-32919600	Weak transcription	Fetal Lung	lung
13	chr14:32919200-32919800	Weak transcription	Brain Anterior Caudate	brain
14	chr14:32919200-32920800	Enhancers	Brain Hippocampus Middle	brain
15	chr14:32919200-32926400	Weak transcription	NHDF-Ad	bronchial
16	chr14:32919400-32923200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:32919400-32923400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:32919600-32920000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:32919600-32920400	Enhancers	Fetal Lung	lung
20	chr14:32919600-32926800	Weak transcription	Aorta	Aorta
21	chr14:32919800-32920800	Enhancers	Brain Anterior Caudate	brain
22	chr14:32919800-32926200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:32920000-32920800	Enhancers	Cortex derived primary cultured neurospheres	brain

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