Variant report

Variant	esv3302435
Chromosome Location	chr14:25417550-25418063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148048158	chr14:25417561-25417562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143834597	chr14:25417562-25417563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35777258	chr14:25417563-25417564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56060482	chr14:25417564-25417565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370872460	chr14:25417565-25417566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1951798	chr14:25417598-25417599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35084807	chr14:25417621-25417622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7143405	chr14:25417679-25417680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187918431	chr14:25417754-25417755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139049591	chr14:25417803-25417804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192517111	chr14:25417805-25417806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183168946	chr14:25417813-25417814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369380421	chr14:25417825-25417826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76309036	chr14:25417828-25417829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115696873	chr14:25417880-25417881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576654563	chr14:25417884-25417885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545615124	chr14:25417950-25417951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565003922	chr14:25417975-25417976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Breast cancer	16272173	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25412000-25417600	Weak transcription	HepG2	liver
2	chr14:25412400-25417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:25412600-25417600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:25412600-25422200	Weak transcription	Fetal Lung	lung
5	chr14:25412600-25422200	Weak transcription	Lung	lung
6	chr14:25412600-25422400	Weak transcription	Right Ventricle	heart
7	chr14:25412600-25423600	Weak transcription	Right Atrium	heart
8	chr14:25412600-25426600	Weak transcription	Fetal Intestine Small	intestine
9	chr14:25412600-25426800	Weak transcription	Fetal Intestine Large	intestine
10	chr14:25412800-25417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:25413000-25417600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:25413600-25422200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:25413800-25422200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:25414200-25417600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:25414200-25419000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:25414200-25422200	Weak transcription	Brain Angular Gyrus	brain
17	chr14:25414200-25422400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:25414200-25424400	Weak transcription	Pancreas	Pancrea
19	chr14:25414800-25421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:25416600-25422200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:25416800-25421600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:25416800-25422000	Weak transcription	Brain Anterior Caudate	brain
23	chr14:25417200-25417800	Enhancers	Left Ventricle	heart
24	chr14:25417200-25419200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:25417400-25417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:25417400-25418000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:25417400-25418200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:25417400-25418200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr14:25417400-25418200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr14:25417600-25417800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:25417600-25418000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:25417600-25418000	Enhancers	HepG2	liver
33	chr14:25417600-25418200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:25417600-25418200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr14:25417600-25418200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:25417800-25422200	Weak transcription	Left Ventricle	heart
37	chr14:25418000-25422000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:25418000-25422200	Weak transcription	HepG2	liver

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