Variant report

Variant	esv16083
Chromosome Location	chr14:33129777-33130735
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	chr14:33129614..33131625-chr14:33133095..33135565,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1884618	chr14:33129792-33129793	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192356145	chr14:33129806-33129807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1884619	chr14:33129814-33129815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568845285	chr14:33129815-33129816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7159987	chr14:33129854-33129855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537525082	chr14:33129886-33129887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184740078	chr14:33129923-33129924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571007797	chr14:33129959-33129960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535238669	chr14:33130019-33130020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553357047	chr14:33130056-33130057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1884620	chr14:33130057-33130058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535458912	chr14:33130058-33130059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557367973	chr14:33130072-33130073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144140703	chr14:33130084-33130085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376866582	chr14:33130127-33130128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2383366	chr14:33130137-33130138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377761436	chr14:33130138-33130139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201254659	chr14:33130139-33130140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10566351	chr14:33130140-33130141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544517210	chr14:33130141-33130142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2383367	chr14:33130146-33130147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560024182	chr14:33130183-33130184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564250197	chr14:33130203-33130204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188752734	chr14:33130235-33130236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148728395	chr14:33130269-33130270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181687900	chr14:33130304-33130305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142260649	chr14:33130369-33130370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186464359	chr14:33130377-33130378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73264832	chr14:33130409-33130410	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7153048	chr14:33130428-33130429	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs189722116	chr14:33130436-33130437	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557106384	chr14:33130438-33130439	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116845832	chr14:33130463-33130464	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180792629	chr14:33130480-33130481	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547199105	chr14:33130483-33130484	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146293612	chr14:33130494-33130495	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571553794	chr14:33130563-33130564	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567636806	chr14:33130564-33130565	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139632863	chr14:33130587-33130588	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557374787	chr14:33130601-33130602	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536586610	chr14:33130637-33130638	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371944194	chr14:33130654-33130655	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548352393	chr14:33130655-33130656	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144249897	chr14:33130669-33130670	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77539966	chr14:33130686-33130687	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573031817	chr14:33130691-33130692	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6571548	chr14:33130721-33130722	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33107000-33130600	Weak transcription	Left Ventricle	heart
2	chr14:33113800-33130600	Weak transcription	Right Ventricle	heart
3	chr14:33115000-33134400	Weak transcription	Psoas Muscle	Psoas
4	chr14:33117800-33149200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:33121000-33134200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:33126400-33132800	Weak transcription	Esophagus	oesophagus
7	chr14:33126600-33131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:33126600-33134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:33126800-33130200	Weak transcription	HSMMtube	muscle
10	chr14:33126800-33130400	Weak transcription	Aorta	Aorta
11	chr14:33126800-33131200	Weak transcription	Osteobl	bone
12	chr14:33126800-33131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:33126800-33131600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:33126800-33131800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:33127200-33131600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:33127400-33130600	Weak transcription	Brain Anterior Caudate	brain
17	chr14:33127400-33131400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:33127400-33131600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:33127400-33136200	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:33127600-33131000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:33127600-33131400	Weak transcription	Brain Angular Gyrus	brain
22	chr14:33128600-33131000	Weak transcription	Brain Substantia Nigra	brain
23	chr14:33129200-33133600	Enhancers	Fetal Heart	heart
24	chr14:33129400-33130000	Enhancers	Right Atrium	heart
25	chr14:33129400-33130000	Enhancers	NHDF-Ad	bronchial
26	chr14:33130000-33130400	Weak transcription	Right Atrium	heart
27	chr14:33130000-33130400	Weak transcription	NHDF-Ad	bronchial
28	chr14:33130200-33131000	Enhancers	HSMMtube	muscle
29	chr14:33130400-33130800	Genic enhancers	Aorta	Aorta
30	chr14:33130400-33131000	Enhancers	Right Atrium	heart
31	chr14:33130400-33132000	Enhancers	NHDF-Ad	bronchial
32	chr14:33130600-33131000	Enhancers	Left Ventricle	heart
33	chr14:33130600-33131000	Enhancers	Right Ventricle	heart
34	chr14:33130600-33131800	Enhancers	Brain Anterior Caudate	brain

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