Variant report

Variant	nsv826913
Chromosome Location	chr14:33106831-33107529
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	chr14:33104661..33106240-chr14:33107373..33109760,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12323763	chr14:33106864-33106865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12323766	chr14:33106926-33106927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575181698	chr14:33106969-33106970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545365614	chr14:33106978-33106979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540369063	chr14:33106995-33106996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7152044	chr14:33107026-33107027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10147066	chr14:33107053-33107054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540352786	chr14:33107071-33107072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144069673	chr14:33107112-33107113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10147330	chr14:33107128-33107129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376250706	chr14:33107137-33107138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7152377	chr14:33107172-33107173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562413347	chr14:33107260-33107261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7153041	chr14:33107318-33107319	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552585879	chr14:33107346-33107347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71432071	chr14:33107382-33107383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570885454	chr14:33107446-33107447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367955376	chr14:33107454-33107455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528571424	chr14:33107519-33107520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33099200-33120400	Weak transcription	Fetal Muscle Leg	muscle
2	chr14:33101800-33107600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:33102600-33107800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:33102800-33107000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:33103200-33107800	Enhancers	Fetal Heart	heart
6	chr14:33103200-33114600	Weak transcription	Aorta	Aorta
7	chr14:33104600-33120400	Weak transcription	HSMMtube	muscle
8	chr14:33104800-33107000	Weak transcription	NH-A	brain
9	chr14:33104800-33107200	Weak transcription	Osteobl	bone
10	chr14:33104800-33116400	Weak transcription	Brain Substantia Nigra	brain
11	chr14:33105000-33117000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:33105000-33117200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:33105200-33107000	Weak transcription	Brain Anterior Caudate	brain
14	chr14:33105200-33116000	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:33105200-33116400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:33106000-33107000	Weak transcription	NHDF-Ad	bronchial
17	chr14:33106200-33107200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:33106600-33107400	Enhancers	Right Atrium	heart
19	chr14:33106800-33107000	Enhancers	Left Ventricle	heart
20	chr14:33106800-33107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:33106800-33107600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:33106800-33107600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:33107000-33107400	Enhancers	Brain Anterior Caudate	brain
24	chr14:33107000-33107400	Enhancers	NH-A	brain
25	chr14:33107000-33107600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:33107000-33107600	Enhancers	NHDF-Ad	bronchial
27	chr14:33107000-33130600	Weak transcription	Left Ventricle	heart
28	chr14:33107200-33107400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:33107200-33107600	Enhancers	Osteobl	bone

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