Variant report

Variant	nsv983766
Chromosome Location	chr14:32914108-32915963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:32908071..32910208-chr14:32913357..32914973,2	K562	blood:
2	chr14:32912752..32915224-chr14:32918324..32920883,2	K562	blood:
3	chr14:32904805..32907044-chr14:32912788..32914378,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP5-3	chr14:32914214-32914511	uc_367_+
2	lnc-C14orf126-11	chr14:32914214-32914511	uc_367_-

Extended variants
information (count: 69 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552096009	chr14:32914115-32914116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570111443	chr14:32914148-32914149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386776187	chr14:32914152-32914153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111772034	chr14:32914153-32914154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7146913	chr14:32914154-32914155	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142613089	chr14:32914290-32914291	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs536417884	chr14:32914343-32914344	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs117524897	chr14:32914352-32914353	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576592952	chr14:32914361-32914362	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs145985754	chr14:32914420-32914421	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565622288	chr14:32914423-32914424	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs139977974	chr14:32914446-32914447	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs541442888	chr14:32914468-32914469	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs142202374	chr14:32914504-32914505	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs7147629	chr14:32914506-32914507	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548429394	chr14:32914535-32914536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377681915	chr14:32914538-32914539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186774936	chr14:32914577-32914578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546692072	chr14:32914582-32914583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552006855	chr14:32914640-32914641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570423714	chr14:32914654-32914655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534286094	chr14:32914666-32914667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546596342	chr14:32914682-32914683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567992101	chr14:32914709-32914710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535517676	chr14:32914728-32914729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567935267	chr14:32914746-32914747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7147853	chr14:32914771-32914772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570226034	chr14:32914772-32914773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537643399	chr14:32914806-32914807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559251611	chr14:32914840-32914841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200484548	chr14:32914843-32914844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577625540	chr14:32914866-32914867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541776607	chr14:32914904-32914905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190089097	chr14:32914912-32914913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574783320	chr14:32914932-32914933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538418198	chr14:32914938-32914939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146636049	chr14:32914966-32914967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563635353	chr14:32915007-32915008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74841237	chr14:32915028-32915029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545609055	chr14:32915125-32915126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569216793	chr14:32915162-32915163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182734301	chr14:32915178-32915179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528346992	chr14:32915179-32915180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546612070	chr14:32915208-32915209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185205419	chr14:32915230-32915231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6571515	chr14:32915242-32915243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149980546	chr14:32915257-32915258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568979741	chr14:32915260-32915261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189761304	chr14:32915350-32915351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558015114	chr14:32915399-32915400	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32908600-32915600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:32908600-32920200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:32908600-32920200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:32908800-32919000	Weak transcription	Right Ventricle	heart
5	chr14:32909000-32919000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:32909000-32919000	Weak transcription	Ovary	ovary
7	chr14:32909000-32923400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:32911800-32918800	Weak transcription	Aorta	Aorta
9	chr14:32912600-32914600	Enhancers	Brain Angular Gyrus	brain
10	chr14:32912600-32915200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:32912800-32914400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:32912800-32914600	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:32913000-32914200	Enhancers	Brain Anterior Caudate	brain
14	chr14:32913400-32914400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:32913400-32914400	Enhancers	Brain Hippocampus Middle	brain
16	chr14:32913400-32914400	Enhancers	Fetal Lung	lung
17	chr14:32913800-32914400	Enhancers	Brain Substantia Nigra	brain
18	chr14:32913800-32914400	Enhancers	HSMM	muscle
19	chr14:32914200-32916200	Weak transcription	Brain Anterior Caudate	brain
20	chr14:32914400-32916200	Weak transcription	Fetal Lung	lung
21	chr14:32914400-32916400	Weak transcription	Brain Substantia Nigra	brain
22	chr14:32914400-32919200	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:32914400-32923000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:32914600-32916200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:32914600-32917200	Weak transcription	Brain Angular Gyrus	brain
26	chr14:32915200-32916200	Weak transcription	Brain Inferior Temporal Lobe	brain

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