Variant report

Variant	esv1833854
Chromosome Location	chr5:28477112-28495502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113567833	chr5:28483403-28483404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142937403	chr5:28483416-28483417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77766124	chr5:28483458-28483459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13174211	chr5:28483508-28483509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10038220	chr5:28483513-28483514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540854831	chr5:28483515-28483516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559266889	chr5:28483536-28483537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572542607	chr5:28483593-28483594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542750880	chr5:28483670-28483671	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187238389	chr5:28483744-28483745	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551379784	chr5:28483784-28483785	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192629089	chr5:28483870-28483871	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550171272	chr5:28483873-28483874	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147429940	chr5:28483896-28483897	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139665864	chr5:28483913-28483914	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548013120	chr5:28483916-28483917	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540035497	chr5:28483932-28483933	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530269587	chr5:28483944-28483945	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12658727	chr5:28483947-28483948	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569696616	chr5:28484007-28484008	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374845929	chr5:28484058-28484059	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs536667077	chr5:28484076-28484077	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558105441	chr5:28484134-28484135	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs570447596	chr5:28484142-28484143	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569792631	chr5:28484147-28484148	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554728797	chr5:28484156-28484157	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553178050	chr5:28484162-28484163	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs574547654	chr5:28484166-28484167	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150854625	chr5:28484176-28484177	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34926461	chr5:28484227-28484228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184380028	chr5:28484252-28484253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573384245	chr5:28484267-28484268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576584298	chr5:28484280-28484281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543871717	chr5:28484281-28484282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565272780	chr5:28484282-28484283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139290562	chr5:28484332-28484333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190592290	chr5:28484359-28484360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559953499	chr5:28484401-28484402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150003402	chr5:28484482-28484483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10075858	chr5:28484536-28484537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569438275	chr5:28484643-28484644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371589633	chr5:28484644-28484645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530507137	chr5:28484661-28484662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562114719	chr5:28484681-28484682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182315631	chr5:28484687-28484688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570109376	chr5:28484696-28484697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185187001	chr5:28484727-28484728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4535464	chr5:28484791-28484792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568317422	chr5:28484798-28484799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552094547	chr5:28484821-28484822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28483400-28483800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:28483600-28484000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:28483600-28484200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:28483800-28484000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:28483800-28484000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:28483800-28484200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:28484000-28486400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:28484200-28488800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:28485400-28487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:28486400-28486800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:28486600-28486800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:28486600-28487200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:28486800-28487000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:28486800-28487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:28487000-28487200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:28487000-28487800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:28487000-28487800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:28487200-28487400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:28487200-28488400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:28487200-28488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:28487400-28488600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:28487400-28489400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:28487600-28488000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:28487600-28488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:28487800-28488800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:28487800-28489800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:28488000-28489200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:28488400-28488800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:28488600-28489400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:28488600-28490000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:28488800-28489000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:28488800-28489200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:28488800-28489400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:28489200-28489400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links