Variant report

Variant	esv1811505
Chromosome Location	chr5:95814169-95828519
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	chr5:95791931..95794711-chr5:95817169..95818775,2	K562	blood:
2	chr5:95804180..95806078-chr5:95818758..95820426,2	K562	blood:

Extended variants
information (count: 505 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574291080	chr5:95814173-95814174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144986947	chr5:95814176-95814177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553674077	chr5:95814214-95814215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571935958	chr5:95814229-95814230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567561299	chr5:95814235-95814236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545820528	chr5:95814281-95814282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191716332	chr5:95814299-95814300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575707662	chr5:95814304-95814305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543132156	chr5:95814305-95814306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73774127	chr5:95814333-95814334	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149169265	chr5:95814339-95814340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146471523	chr5:95814348-95814349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558968719	chr5:95814366-95814367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559641016	chr5:95814392-95814393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533150840	chr5:95814393-95814394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77541530	chr5:95814446-95814447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373801613	chr5:95814468-95814469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537501428	chr5:95814478-95814479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1036599	chr5:95814489-95814490	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183493260	chr5:95814496-95814497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554855011	chr5:95814511-95814512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574498282	chr5:95814550-95814551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574607470	chr5:95814577-95814578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113058069	chr5:95814604-95814605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553373442	chr5:95814608-95814609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10085031	chr5:95814624-95814625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373013525	chr5:95814629-95814630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578219638	chr5:95814633-95814634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538987752	chr5:95814640-95814641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs155437	chr5:95814666-95814667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs72774866	chr5:95814699-95814700	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543068547	chr5:95814816-95814817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576510610	chr5:95814837-95814838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147877587	chr5:95814894-95814895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs155958	chr5:95814948-95814949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141596748	chr5:95814967-95814968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554597313	chr5:95815027-95815028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559304791	chr5:95815122-95815123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147034439	chr5:95815134-95815135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35847603	chr5:95815155-95815156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199697076	chr5:95815156-95815157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs66736604	chr5:95815157-95815158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77328243	chr5:95815171-95815172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138752355	chr5:95815172-95815173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71617120	chr5:95815173-95815174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530970747	chr5:95815256-95815257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562135348	chr5:95815284-95815285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549488264	chr5:95815330-95815331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188885995	chr5:95815352-95815353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531347115	chr5:95815357-95815358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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	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
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
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
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95811600-95816400	Weak transcription	Hela-S3	cervix
2	chr5:95812600-95840400	Weak transcription	Aorta	Aorta
3	chr5:95812800-95814800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:95813600-95827400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95814600-95815600	Enhancers	Pancreas	Pancrea
6	chr5:95815800-95818200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:95816400-95818000	Enhancers	Hela-S3	cervix
8	chr5:95818000-95827200	Weak transcription	Hela-S3	cervix
9	chr5:95818200-95823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:95823000-95824800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:95823200-95823600	Bivalent Enhancer	NHDF-Ad	bronchial
12	chr5:95823200-95825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:95824200-95824400	Bivalent Enhancer	NHDF-Ad	bronchial
14	chr5:95825400-95825800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:95827200-95830400	Enhancers	Hela-S3	cervix
16	chr5:95827400-95827600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:95827600-95827800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:95827600-95828000	Enhancers	A549	lung
19	chr5:95828000-95829000	Weak transcription	A549	lung
20	chr5:95828200-95828800	Enhancers	NHEK	skin
21	chr5:95828400-95829400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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