Variant report

Variant	nsv327963
Chromosome Location	chr5:93508405-93517955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 223 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:223 , 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	rs567848297	chr5:93508463-93508464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573613428	chr5:93508596-93508597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531092429	chr5:93508613-93508614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372087436	chr5:93508625-93508626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536763738	chr5:93508639-93508640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550375400	chr5:93508668-93508669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570427881	chr5:93508752-93508753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539020717	chr5:93508795-93508796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148409335	chr5:93508812-93508813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181921540	chr5:93508821-93508822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145273853	chr5:93508850-93508851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147638165	chr5:93508883-93508884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186207839	chr5:93508912-93508913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13156002	chr5:93508931-93508932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543902269	chr5:93509043-93509044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563592643	chr5:93509089-93509090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577209361	chr5:93509207-93509208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574870244	chr5:93509220-93509221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115840240	chr5:93509229-93509230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189931608	chr5:93509288-93509289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181662455	chr5:93509289-93509290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575510504	chr5:93509310-93509311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544695473	chr5:93509325-93509326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561965569	chr5:93509418-93509419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530961861	chr5:93509422-93509423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550658105	chr5:93509466-93509467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570441250	chr5:93509496-93509497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9968749	chr5:93509559-93509560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142313145	chr5:93509570-93509571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13185608	chr5:93509688-93509689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9968691	chr5:93509756-93509757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555655253	chr5:93509770-93509771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186463135	chr5:93509838-93509839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191237660	chr5:93509840-93509841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373019337	chr5:93510020-93510021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577245337	chr5:93510039-93510040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546212687	chr5:93510057-93510058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552963998	chr5:93510088-93510089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572873309	chr5:93510138-93510139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182233268	chr5:93510192-93510193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377334703	chr5:93510196-93510197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185038915	chr5:93510241-93510242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573378877	chr5:93510351-93510352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531172912	chr5:93510452-93510453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369722138	chr5:93510479-93510480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373309383	chr5:93510494-93510495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543945934	chr5:93510547-93510548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145921439	chr5:93510618-93510619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562939375	chr5:93510621-93510622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151204500	chr5:93510627-93510628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93507000-93517200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:93507200-93519200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:93507600-93511600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:93507600-93511800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:93507600-93517400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:93509000-93509200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:93509000-93511400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:93509200-93509600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:93509400-93510000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:93509400-93511600	Enhancers	NHDF-Ad	bronchial
11	chr5:93509600-93510600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:93509800-93510800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:93509800-93511000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:93510000-93510400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:93510000-93511000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:93510200-93511200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:93510200-93511400	Enhancers	Osteobl	bone
18	chr5:93510200-93511600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:93510400-93510800	Enhancers	HMEC	breast
20	chr5:93510400-93511000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:93510400-93511000	Enhancers	NHLF	lung
22	chr5:93510400-93511200	Enhancers	NH-A	brain
23	chr5:93510400-93511600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:93510600-93510800	Enhancers	HSMM	muscle
25	chr5:93510600-93511000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:93510800-93511200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:93511000-93512200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:93511000-93514800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:93511200-93512400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:93511200-93514800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:93511400-93512600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:93511400-93513800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:93511600-93512000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:93511600-93512800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:93511600-93516800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:93511800-93512800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:93511800-93513400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:93512000-93512200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:93512200-93518600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:93512600-93512800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:93512600-93512800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:93512600-93512800	Enhancers	NHLF	lung
43	chr5:93512600-93513400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:93512800-93516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:93512800-93520600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:93513200-93513400	Enhancers	HSMM	muscle
47	chr5:93513200-93513400	Enhancers	Osteobl	bone
48	chr5:93513200-93513600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:93513400-93514000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:93513400-93517200	Weak transcription	HSMM	muscle

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