Variant report

Variant	esv3446012
Chromosome Location	chr5:89277896-89281194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564205373	chr5:89277943-89277944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549722474	chr5:89277944-89277945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373371441	chr5:89277964-89277965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75481467	chr5:89277989-89277990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191453239	chr5:89277997-89277998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143046578	chr5:89278019-89278020	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183970168	chr5:89278054-89278055	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138711632	chr5:89278086-89278087	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10074210	chr5:89278099-89278100	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189419283	chr5:89278109-89278110	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545092744	chr5:89278143-89278144	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78117811	chr5:89278159-89278160	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553869814	chr5:89278182-89278183	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35796018	chr5:89278218-89278219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377167578	chr5:89278230-89278231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575883428	chr5:89278240-89278241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544781637	chr5:89278251-89278252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542623089	chr5:89278336-89278337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147403164	chr5:89278394-89278395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375128213	chr5:89278397-89278398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561192471	chr5:89278413-89278414	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371311839	chr5:89278420-89278421	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113196773	chr5:89278471-89278472	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139613906	chr5:89278482-89278483	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565375957	chr5:89278531-89278532	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193131721	chr5:89278599-89278600	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185187286	chr5:89278600-89278601	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560294530	chr5:89278659-89278660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150579329	chr5:89278661-89278662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548748841	chr5:89278671-89278672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569109291	chr5:89278702-89278703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6883728	chr5:89278741-89278742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551669818	chr5:89278859-89278860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149765794	chr5:89278870-89278871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533739664	chr5:89278874-89278875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553808327	chr5:89278923-89278924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567462104	chr5:89278978-89278979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76526907	chr5:89278993-89278994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115714810	chr5:89279002-89279003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190068232	chr5:89279035-89279036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181143573	chr5:89279055-89279056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146316120	chr5:89279073-89279074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185504320	chr5:89279108-89279109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536048974	chr5:89279165-89279166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76180767	chr5:89279195-89279196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529024226	chr5:89279205-89279206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79606013	chr5:89279220-89279221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562310446	chr5:89279222-89279223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139610816	chr5:89279256-89279257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10044667	chr5:89279260-89279261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89276600-89278000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:89276600-89278800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:89277000-89278600	Enhancers	NHDF-Ad	bronchial
4	chr5:89277400-89278600	Weak transcription	Stomach Mucosa	stomach
5	chr5:89278000-89278200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:89278000-89278200	Enhancers	Adipose Nuclei	Adipose
7	chr5:89278200-89278400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:89278400-89278600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:89278600-89278800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:89278600-89279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:89278600-89283200	Weak transcription	NHDF-Ad	bronchial
12	chr5:89278800-89279000	Enhancers	Stomach Mucosa	stomach
13	chr5:89278800-89279400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:89278800-89280000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:89279000-89279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:89279000-89279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:89279400-89283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:89279400-89283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:89279800-89283000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:89280000-89283000	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links