Variant report

Variant	nsv10722
Chromosome Location	chr5:97439602-97442546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4349742	chr5:97439630-97439631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190315140	chr5:97439631-97439632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61062607	chr5:97439655-97439656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570075764	chr5:97439671-97439672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532531215	chr5:97439689-97439690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537454344	chr5:97439716-97439717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4388230	chr5:97439754-97439755	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35275026	chr5:97439763-97439764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568979829	chr5:97439803-97439804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370870667	chr5:97439835-97439836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4441898	chr5:97439854-97439855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4349743	chr5:97439858-97439859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572564746	chr5:97439884-97439885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78322149	chr5:97439886-97439887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397967540	chr5:97439892-97439893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76311339	chr5:97439932-97439933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs33921630	chr5:97439933-97439934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551762518	chr5:97439955-97439956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553985796	chr5:97439961-97439962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546476724	chr5:97439973-97439974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192806536	chr5:97440042-97440043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184943953	chr5:97440069-97440070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570562810	chr5:97440083-97440084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189623629	chr5:97440094-97440095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543877745	chr5:97440106-97440107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529362099	chr5:97440125-97440126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562148299	chr5:97440162-97440163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181919823	chr5:97440178-97440179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541189084	chr5:97440189-97440190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs59027384	chr5:97440203-97440204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143083795	chr5:97440230-97440231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552008677	chr5:97440250-97440251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7733470	chr5:97440262-97440263	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531201121	chr5:97440266-97440267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143674476	chr5:97440352-97440353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567982297	chr5:97440358-97440359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7720359	chr5:97440378-97440379	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10669674	chr5:97440389-97440390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs33915745	chr5:97440390-97440391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397735877	chr5:97440394-97440395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201126015	chr5:97440395-97440396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199745294	chr5:97440396-97440397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10051746	chr5:97440401-97440402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7733677	chr5:97440404-97440405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540084100	chr5:97440425-97440426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571503629	chr5:97440453-97440454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576842722	chr5:97440471-97440472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185433403	chr5:97440488-97440489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555704493	chr5:97440542-97440543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189122555	chr5:97440551-97440552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97432200-97440800	Weak transcription	HSMM	muscle
2	chr5:97432400-97443400	Weak transcription	NH-A	brain
3	chr5:97432800-97440600	Weak transcription	NHLF	lung
4	chr5:97432800-97441400	Weak transcription	Osteobl	bone
5	chr5:97436200-97442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:97436200-97443400	Weak transcription	HMEC	breast
7	chr5:97436400-97440800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:97437000-97439800	Weak transcription	NHDF-Ad	bronchial
9	chr5:97437400-97442000	Weak transcription	HUVEC	blood vessel
10	chr5:97437600-97440000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:97437800-97441000	Weak transcription	HSMMtube	muscle
12	chr5:97438800-97440200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:97438800-97441400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:97438800-97442400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:97438800-97442800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:97439600-97439800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:97439600-97440400	Enhancers	Adipose Nuclei	Adipose
18	chr5:97439800-97440200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:97439800-97445000	Enhancers	NHDF-Ad	bronchial
20	chr5:97440000-97443200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:97440200-97441000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:97440200-97447800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:97440400-97440800	Weak transcription	Adipose Nuclei	Adipose
24	chr5:97440400-97442400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:97440600-97441400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:97440600-97441800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:97440600-97442800	Enhancers	NHLF	lung
28	chr5:97440800-97441200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:97440800-97441800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:97440800-97442600	Enhancers	Adipose Nuclei	Adipose
31	chr5:97440800-97445000	Enhancers	HSMM	muscle
32	chr5:97441000-97441400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:97441000-97442200	Enhancers	HSMMtube	muscle
34	chr5:97441200-97442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:97441400-97441600	Enhancers	Osteobl	bone
36	chr5:97441400-97442200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:97441400-97444600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:97441400-97444600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:97441600-97442000	Flanking Active TSS	Osteobl	bone
40	chr5:97441800-97442600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:97441800-97442600	Enhancers	Fetal Lung	lung
42	chr5:97442000-97442600	Enhancers	HUVEC	blood vessel
43	chr5:97442000-97445000	Enhancers	Osteobl	bone
44	chr5:97442200-97444200	Weak transcription	HSMMtube	muscle
45	chr5:97442200-97446400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:97442200-97447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:97442400-97442600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:97442400-97443600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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