Variant report

Variant	esv3436176
Chromosome Location	chr14:42581827-42584375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145552038	chr14:42581836-42581837	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559499850	chr14:42581875-42581876	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532940754	chr14:42581902-42581903	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551891527	chr14:42581904-42581905	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1763259	chr14:42581943-42581944	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530839267	chr14:42581976-42581977	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548948545	chr14:42581997-42581998	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35416489	chr14:42582001-42582002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534988586	chr14:42582010-42582011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61990363	chr14:42582023-42582024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143086093	chr14:42582042-42582043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538857214	chr14:42582047-42582048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148210434	chr14:42582093-42582094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576192672	chr14:42582094-42582095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537106126	chr14:42582097-42582098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143232938	chr14:42582098-42582099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147517070	chr14:42582108-42582109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573629679	chr14:42582111-42582112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1684714	chr14:42582175-42582176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201261601	chr14:42582179-42582180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191222888	chr14:42582183-42582184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183728201	chr14:42582196-42582197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535656753	chr14:42582215-42582216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140065723	chr14:42582234-42582235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549212160	chr14:42582237-42582238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117336626	chr14:42582246-42582247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542666310	chr14:42582263-42582264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560956065	chr14:42582265-42582266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528459574	chr14:42582313-42582314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370793366	chr14:42582329-42582330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79341510	chr14:42582355-42582356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547318905	chr14:42582368-42582369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538175324	chr14:42582402-42582403	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs144115647	chr14:42582415-42582416	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs374473863	chr14:42582423-42582424	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571830166	chr14:42582437-42582438	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs368609194	chr14:42582442-42582443	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550912049	chr14:42582463-42582464	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs569443678	chr14:42582475-42582476	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537144782	chr14:42582496-42582497	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555459312	chr14:42582599-42582600	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs1684713	chr14:42582602-42582603	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113851502	chr14:42582607-42582608	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553259832	chr14:42582637-42582638	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577843685	chr14:42582663-42582664	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545252529	chr14:42582694-42582695	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368662373	chr14:42582730-42582731	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368371395	chr14:42582738-42582739	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs190279834	chr14:42582759-42582760	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112852160	chr14:42582794-42582795	Weak transcription Active TSS ZNF genes & repeats	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
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
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42580200-42582000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:42581000-42583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:42581200-42582200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:42581600-42582000	Active TSS	Osteobl	bone
5	chr14:42582200-42582400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:42582400-42583400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:42582600-42583200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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