Variant report

Variant	nsv4807
Chromosome Location	chr5:40570800-40615779
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40585305..40587948-chr5:40591345..40593362,2	K562	blood:
2	chr5:40600344..40602716-chr5:40607578..40609577,2	MCF-7	breast:
3	chr5:40600344..40602716-chr5:40607578..40609577,2	MCF-7	breast:
4	chr5:40615152..40618553-chr5:40619253..40622598,5	K562	blood:
5	chr5:40585697..40588558-chr5:40596793..40599081,3	K562	blood:
6	chr5:40585697..40588558-chr5:40597163..40599081,2	K562	blood:
7	chr5:40607024..40608930-chr5:40619320..40622022,2	MCF-7	breast:
8	chr5:39726682..39729154-chr5:40591886..40594067,2	K562	blood:
9	chr5:40585305..40587948-chr5:40591345..40593362,2	K562	blood:
10	chr5:40585697..40588558-chr5:40597163..40599081,2	K562	blood:
11	chr5:40571034..40573630-chr5:40833870..40835374,2	K562	blood:
12	chr5:40585697..40588558-chr5:40596793..40599081,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145592	chromatin interactions

Extended variants
information (count: 1610 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1610 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540486138	chr5:40570817-40570818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565451504	chr5:40570821-40570822	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532859982	chr5:40570884-40570885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186624421	chr5:40570952-40570953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189564022	chr5:40570954-40570955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184068287	chr5:40570998-40570999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529654382	chr5:40571012-40571013	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548294194	chr5:40571016-40571017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566425781	chr5:40571026-40571027	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs533849083	chr5:40571032-40571033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572293368	chr5:40571036-40571037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551973778	chr5:40571104-40571105	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570263700	chr5:40571110-40571111	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540621572	chr5:40571133-40571134	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557969098	chr5:40571175-40571176	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147323867	chr5:40571202-40571203	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369027025	chr5:40571203-40571204	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560499946	chr5:40571218-40571219	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188673405	chr5:40571219-40571220	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554915305	chr5:40571233-40571234	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573278334	chr5:40571247-40571248	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149452587	chr5:40571288-40571289	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540494008	chr5:40571299-40571300	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565489564	chr5:40571301-40571302	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370701626	chr5:40571334-40571335	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193168297	chr5:40571336-40571337	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375052159	chr5:40571369-40571370	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185100375	chr5:40571390-40571391	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529727619	chr5:40571449-40571450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368429517	chr5:40571452-40571453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143882502	chr5:40571482-40571483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560063575	chr5:40571521-40571522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527395890	chr5:40571555-40571556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551813023	chr5:40571556-40571557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187261411	chr5:40571569-40571570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191762536	chr5:40571610-40571611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549701903	chr5:40571697-40571698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371397215	chr5:40571761-40571762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568283362	chr5:40571762-40571763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114984757	chr5:40571766-40571767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554669610	chr5:40571784-40571785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116665549	chr5:40571852-40571853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148628253	chr5:40571877-40571878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559089300	chr5:40571889-40571890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577540891	chr5:40571900-40571901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371951559	chr5:40571971-40571972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112241736	chr5:40572023-40572024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556680724	chr5:40572047-40572048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188321188	chr5:40572095-40572096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563044428	chr5:40572161-40572162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	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	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40568200-40571000	Enhancers	NHEK	skin
2	chr5:40568600-40570800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:40568600-40570800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:40568600-40571000	Enhancers	HMEC	breast
5	chr5:40568600-40571400	Enhancers	HUVEC	blood vessel
6	chr5:40568600-40572200	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:40568600-40574400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:40569000-40574200	Enhancers	NHDF-Ad	bronchial
9	chr5:40569200-40571600	Enhancers	Primary B cells from cord blood	blood
10	chr5:40569200-40572400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:40569200-40576200	Enhancers	Fetal Lung	lung
12	chr5:40569400-40570800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:40569400-40571000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:40569400-40571000	Enhancers	Fetal Stomach	stomach
15	chr5:40569600-40571600	Enhancers	HSMM	muscle
16	chr5:40569800-40571000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:40569800-40571200	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:40569800-40571400	Enhancers	NH-A	brain
19	chr5:40569800-40571400	Enhancers	NHLF	lung
20	chr5:40569800-40571800	Enhancers	Fetal Kidney	kidney
21	chr5:40569800-40572600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:40569800-40573600	Enhancers	Osteobl	bone
23	chr5:40570000-40571000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:40570000-40571000	Enhancers	A549	lung
25	chr5:40570000-40572400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:40570200-40571600	Enhancers	HSMMtube	muscle
27	chr5:40570400-40570800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:40570400-40570800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:40570400-40571000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:40570800-40571800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:40570800-40572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:40570800-40572800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:40571000-40571200	Enhancers	Fetal Muscle Leg	muscle
34	chr5:40571000-40572000	Weak transcription	Fetal Stomach	stomach
35	chr5:40571000-40574400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:40571000-40578400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:40571200-40571400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
38	chr5:40571200-40572200	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:40571400-40572400	Weak transcription	NHLF	lung
40	chr5:40571600-40572000	Weak transcription	HSMM	muscle
41	chr5:40571800-40572000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:40571800-40572000	Weak transcription	Fetal Kidney	kidney
43	chr5:40572000-40572400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:40572000-40572600	Enhancers	Colon Smooth Muscle	Colon
45	chr5:40572000-40573400	Enhancers	HSMM	muscle
46	chr5:40572000-40573800	Enhancers	Fetal Stomach	stomach
47	chr5:40572000-40574200	Enhancers	Fetal Kidney	kidney
48	chr5:40572200-40572400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:40572200-40573400	Enhancers	Fetal Muscle Leg	muscle
50	chr5:40572400-40573200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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