Variant report

Variant	nsv1028022
Chromosome Location	chr5:58673780-58786468
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:58784059..58785575-chr5:58790965..58792487,2	MCF-7	breast:
2	chr5:58685562..58686590-chr5:58792342..58793267,6	MCF-7	breast:
3	chr5:58657123..58657869-chr5:58676349..58676935,2	MCF-7	breast:
4	chr5:58514307..58514912-chr5:58675986..58677121,4	MCF-7	breast:
5	chr5:58737750..58739829-chr5:58740466..58743523,3	MCF-7	breast:
6	chr5:58484203..58484779-chr5:58676055..58676926,3	MCF-7	breast:
7	chr5:58685998..58686505-chr5:58956311..58957192,2	MCF-7	breast:
8	chr5:58709583..58712076-chr5:58713537..58715588,2	MCF-7	breast:
9	chr5:58709583..58712076-chr5:58713537..58715588,2	MCF-7	breast:
10	chr5:58484022..58484971-chr5:58675909..58676491,2	MCF-7	breast:
11	chr5:58737750..58739829-chr5:58740466..58743523,3	MCF-7	breast:

No data

Extended variants
information (count: 4242 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:4242 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181850873	chr5:58673804-58673805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565634126	chr5:58673808-58673809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534612811	chr5:58673822-58673823	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs548262256	chr5:58673828-58673829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs244586	chr5:58673860-58673861	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553036834	chr5:58673865-58673866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537236346	chr5:58673916-58673917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557154124	chr5:58673944-58673945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577041616	chr5:58673964-58673965	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560263745	chr5:58673969-58673970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186449014	chr5:58674040-58674041	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553009306	chr5:58674052-58674053	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191750552	chr5:58674084-58674085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572811231	chr5:58674178-58674179	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs573409114	chr5:58674226-58674227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376212132	chr5:58674228-58674229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575368109	chr5:58674258-58674259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146990994	chr5:58674275-58674276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544453845	chr5:58674301-58674302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564671412	chr5:58674306-58674307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144496826	chr5:58674326-58674327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552438513	chr5:58674345-58674346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183577768	chr5:58674389-58674390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148394114	chr5:58674412-58674413	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540678151	chr5:58674416-58674417	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528093258	chr5:58674441-58674442	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370055795	chr5:58674445-58674446	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145051956	chr5:58674494-58674495	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568149576	chr5:58674505-58674506	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34756714	chr5:58674519-58674520	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114669898	chr5:58674522-58674523	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7711649	chr5:58674534-58674535	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147569924	chr5:58674590-58674591	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539267906	chr5:58674610-58674611	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553228758	chr5:58674648-58674649	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77993802	chr5:58674649-58674650	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535441608	chr5:58674661-58674662	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555366554	chr5:58674704-58674705	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs244587	chr5:58674724-58674725	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77352204	chr5:58674739-58674740	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569165164	chr5:58674761-58674762	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529510178	chr5:58674768-58674769	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142626184	chr5:58674775-58674776	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578089111	chr5:58674790-58674791	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549261630	chr5:58674795-58674796	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181503251	chr5:58674806-58674807	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3061658	chr5:58674807-58674808	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200260677	chr5:58674808-58674809	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs66662743	chr5:58674818-58674819	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560760144	chr5:58674829-58674830	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
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
Cancer	16751803	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58666000-58681400	Weak transcription	Psoas Muscle	Psoas
2	chr5:58668000-58676200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:58668800-58675600	Weak transcription	Pancreas	Pancrea
4	chr5:58671000-58676200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:58672200-58689200	Weak transcription	Fetal Brain Female	brain
6	chr5:58672800-58681600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:58673600-58674200	ZNF genes & repeats	A549	lung
8	chr5:58673800-58677400	Weak transcription	Fetal Intestine Large	intestine
9	chr5:58674200-58674400	Weak transcription	A549	lung
10	chr5:58674400-58676000	Genic enhancers	A549	lung
11	chr5:58674600-58675000	Enhancers	Fetal Brain Male	brain
12	chr5:58674800-58675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:58674800-58675200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:58674800-58676800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:58675000-58676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:58675000-58677400	Weak transcription	Fetal Brain Male	brain
17	chr5:58675400-58681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:58675800-58676800	Enhancers	Hela-S3	cervix
19	chr5:58676000-58676200	Enhancers	A549	lung
20	chr5:58676000-58676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:58676000-58676400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:58676200-58676400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:58676200-58676400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:58676200-58676400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:58676200-58676400	Enhancers	Brain Angular Gyrus	brain
26	chr5:58676200-58676400	Enhancers	Fetal Kidney	kidney
27	chr5:58676200-58676400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:58676200-58676400	Flanking Active TSS	A549	lung
29	chr5:58676200-58676400	Flanking Active TSS	NH-A	brain
30	chr5:58676200-58676400	Enhancers	NHEK	skin
31	chr5:58676200-58676600	Enhancers	Fetal Heart	heart
32	chr5:58676200-58677000	Enhancers	Colon Smooth Muscle	Colon
33	chr5:58676200-58677000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:58676200-58677000	Enhancers	Fetal Lung	lung
35	chr5:58676200-58677000	Enhancers	Rectal Smooth Muscle	rectum
36	chr5:58676200-58678000	Enhancers	Fetal Intestine Small	intestine
37	chr5:58676200-58678200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:58676200-58678400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:58676400-58677400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:58676400-58681600	Enhancers	A549	lung
41	chr5:58676400-58686200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:58677000-58677800	Weak transcription	Fetal Lung	lung
43	chr5:58677400-58677800	Enhancers	Fetal Intestine Large	intestine
44	chr5:58677400-58678000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:58677400-58678200	Enhancers	Fetal Brain Male	brain
46	chr5:58677800-58678000	Enhancers	Fetal Lung	lung
47	chr5:58678000-58683000	Weak transcription	Fetal Intestine Small	intestine
48	chr5:58678200-58679200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:58678400-58681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:58679000-58679400	Enhancers	Brain Hippocampus Middle	brain

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