Variant report

Variant	nsv1029175
Chromosome Location	chr5:92436038-92548473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:92490041..92490820-chr6:106582809..106583364,2	MCF-7	breast:
2	chr5:92459385..92461272-chr5:92463234..92464762,2	K562	blood:
3	chr5:92449412..92451915-chr5:92457992..92460687,2	K562	blood:
4	chr5:92492798..92494347-chr5:92496334..92499006,2	MCF-7	breast:
5	chr4:90725590..90726217-chr5:92493530..92494422,2	MCF-7	breast:
6	chr5:92543556..92544227-chr7:71193668..71194371,2	MCF-7	breast:
7	chr5:92492798..92494347-chr5:92496334..92499006,2	MCF-7	breast:
8	chr5:92459385..92461272-chr5:92463234..92464762,2	K562	blood:
9	chr5:92449412..92451915-chr5:92457992..92460687,2	K562	blood:

No data

Extended variants
information (count: 3745 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3745 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192309696	chr5:92436040-92436041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184517206	chr5:92436041-92436042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561899577	chr5:92436044-92436045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369157433	chr5:92436052-92436053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560697123	chr5:92436061-92436062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531156125	chr5:92436127-92436128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75065235	chr5:92436159-92436160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564142304	chr5:92436201-92436202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111345441	chr5:92436204-92436205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532767559	chr5:92436219-92436220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140069838	chr5:92436275-92436276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150332571	chr5:92436295-92436296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528953300	chr5:92436309-92436310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549248352	chr5:92436328-92436329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76615913	chr5:92436336-92436337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137977093	chr5:92436435-92436436	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141058978	chr5:92436437-92436438	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144787909	chr5:92436463-92436464	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571492457	chr5:92436467-92436468	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539466146	chr5:92436565-92436566	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375197965	chr5:92436620-92436621	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552908770	chr5:92436663-92436664	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10585290	chr5:92436680-92436681	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373753989	chr5:92436683-92436684	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563552560	chr5:92436760-92436761	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74398905	chr5:92436773-92436774	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541916606	chr5:92436779-92436780	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115316990	chr5:92436792-92436793	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187265859	chr5:92436813-92436814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546674955	chr5:92436873-92436874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114765856	chr5:92437065-92437066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115604079	chr5:92437097-92437098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528691835	chr5:92437099-92437100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367861977	chr5:92437125-92437126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78153934	chr5:92437128-92437129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75481942	chr5:92437150-92437151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115322913	chr5:92437154-92437155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529340034	chr5:92437273-92437274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549086676	chr5:92437301-92437302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569102705	chr5:92437332-92437333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571892807	chr5:92437394-92437395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376238138	chr5:92437411-92437412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527600619	chr5:92437430-92437431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551519885	chr5:92437503-92437504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78221810	chr5:92437514-92437515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548815148	chr5:92437516-92437517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571460644	chr5:92437601-92437602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1496334	chr5:92437628-92437629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546635745	chr5:92437638-92437639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551278470	chr5:92437656-92437657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Esophageal adenocarcinoma	18519675	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92435400-92436200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:92435400-92436200	Enhancers	Placenta	Placenta
3	chr5:92435400-92436200	Enhancers	HSMM	muscle
4	chr5:92435400-92436400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:92435400-92436400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:92435400-92436400	Enhancers	Hela-S3	cervix
7	chr5:92435400-92436600	Enhancers	Osteobl	bone
8	chr5:92435400-92436800	Enhancers	A549	lung
9	chr5:92435400-92437600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:92435600-92436200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:92435600-92436400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:92435600-92436600	Enhancers	NHDF-Ad	bronchial
13	chr5:92435800-92436200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:92435800-92436400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:92436200-92438800	Weak transcription	HSMM	muscle
16	chr5:92436400-92436800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:92436800-92437400	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:92436800-92437600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:92437400-92443000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:92441800-92444000	Enhancers	Fetal Kidney	kidney
21	chr5:92442200-92444200	Enhancers	Fetal Lung	lung
22	chr5:92442200-92444200	Enhancers	Ovary	ovary
23	chr5:92442800-92443800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:92442800-92443800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:92442800-92444200	Enhancers	Adipose Nuclei	Adipose
26	chr5:92443000-92443200	Enhancers	Stomach Smooth Muscle	stomach
27	chr5:92443000-92443600	Enhancers	Colon Smooth Muscle	Colon
28	chr5:92443000-92443800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:92443000-92444200	Enhancers	Fetal Stomach	stomach
30	chr5:92443200-92444000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:92443600-92444000	Enhancers	HepG2	liver
32	chr5:92443800-92450800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:92444000-92444200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:92444000-92444200	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:92450800-92451400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:92452800-92454400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:92453000-92454600	Enhancers	HUVEC	blood vessel
38	chr5:92453600-92454000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:92453600-92454200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:92453600-92454200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:92453600-92454400	Enhancers	Fetal Heart	heart
42	chr5:92453600-92454400	Enhancers	Fetal Lung	lung
43	chr5:92453600-92454400	Enhancers	Hela-S3	cervix
44	chr5:92453600-92454400	Enhancers	NHEK	skin
45	chr5:92453600-92454600	Enhancers	HMEC	breast
46	chr5:92453800-92454200	Enhancers	HepG2	liver
47	chr5:92453800-92454200	Enhancers	NH-A	brain
48	chr5:92453800-92454400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:92453800-92454400	Enhancers	HSMM	muscle
50	chr5:92453800-92454600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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