Variant report

Variant	nsv882409
Chromosome Location	chr5:97761687-97817930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2067 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2067 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10478264	chr5:97761687-97761688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569086442	chr5:97761692-97761693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530429126	chr5:97761697-97761698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536416918	chr5:97761712-97761713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554443138	chr5:97761724-97761725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575153091	chr5:97761735-97761736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573129737	chr5:97761803-97761804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74651485	chr5:97761804-97761805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112357898	chr5:97761816-97761817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78997133	chr5:97761827-97761828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543913044	chr5:97761836-97761837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78400053	chr5:97761853-97761854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571657808	chr5:97761868-97761869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113973882	chr5:97761894-97761895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375619904	chr5:97761927-97761928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56218605	chr5:97761933-97761934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73143866	chr5:97762011-97762012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532717653	chr5:97762015-97762016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552424562	chr5:97762020-97762021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113188119	chr5:97762038-97762039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568741376	chr5:97762046-97762047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531701252	chr5:97762051-97762052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11960474	chr5:97762090-97762091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568566143	chr5:97762102-97762103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535558767	chr5:97762128-97762129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567613852	chr5:97762154-97762155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554791814	chr5:97762157-97762158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114833893	chr5:97762190-97762191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531681803	chr5:97762195-97762196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533841126	chr5:97762206-97762207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558392076	chr5:97762225-97762226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576447363	chr5:97762228-97762229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188886142	chr5:97762248-97762249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116584735	chr5:97762331-97762332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574510038	chr5:97762389-97762390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17165950	chr5:97762437-97762438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560739375	chr5:97762472-97762473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144249550	chr5:97762484-97762485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148716950	chr5:97762548-97762549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564740128	chr5:97762577-97762578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548180207	chr5:97762653-97762654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568071338	chr5:97762781-97762782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532019316	chr5:97762799-97762800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550230451	chr5:97762855-97762856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561930122	chr5:97762870-97762871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529438823	chr5:97762964-97762965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555243762	chr5:97762968-97762969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542004377	chr5:97762969-97762970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547529719	chr5:97762989-97762990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35243841	chr5:97762993-97762994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97755200-97763800	Weak transcription	Small Intestine	intestine
2	chr5:97755200-97764400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:97755800-97761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:97760000-97762000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:97760000-97762000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:97760200-97761800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:97760200-97761800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:97760200-97762600	Enhancers	Fetal Stomach	stomach
9	chr5:97760400-97762400	Enhancers	Colon Smooth Muscle	Colon
10	chr5:97760600-97761800	Enhancers	HSMMtube	muscle
11	chr5:97760800-97762000	Enhancers	Fetal Muscle Leg	muscle
12	chr5:97760800-97763000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:97761000-97762000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:97761200-97762000	Enhancers	NHLF	lung
15	chr5:97761200-97762600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:97761200-97764400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:97761200-97764400	Enhancers	NHDF-Ad	bronchial
18	chr5:97761400-97767800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:97761600-97761800	Enhancers	Fetal Kidney	kidney
20	chr5:97761600-97762600	Enhancers	Stomach Smooth Muscle	stomach
21	chr5:97761600-97763200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:97761600-97763400	Weak transcription	HSMM	muscle
23	chr5:97761600-97764400	Weak transcription	Osteobl	bone
24	chr5:97761800-97762400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:97761800-97763800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:97761800-97764800	Weak transcription	HSMMtube	muscle
27	chr5:97762000-97762200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:97762000-97762600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:97762000-97762800	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:97762000-97763400	Weak transcription	NHLF	lung
31	chr5:97762000-97764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:97762200-97767000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:97762400-97766600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:97762600-97762800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:97762600-97763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:97762600-97763800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:97762600-97764600	Weak transcription	Fetal Stomach	stomach
38	chr5:97762800-97763800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:97763000-97764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:97763200-97763400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:97763200-97765200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:97763400-97765000	Enhancers	NHLF	lung
43	chr5:97763400-97765200	Enhancers	HSMM	muscle
44	chr5:97763400-97767800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:97763800-97764400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:97763800-97764600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:97763800-97764800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:97763800-97764800	Enhancers	Small Intestine	intestine
49	chr5:97763800-97765000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:97763800-97765200	Enhancers	Stomach Smooth Muscle	stomach

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