Variant report

Variant	nsv880717
Chromosome Location	chr5:54025701-54106378
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:64)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:54048212..54050692-chr5:54052944..54054677,2	K562	blood:
2	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:
3	chr5:54044170..54046541-chr5:54049727..54052446,2	MCF-7	breast:
4	chr5:54014462..54016849-chr5:54037550..54040142,2	K562	blood:
5	chr5:54037843..54039936-chr5:54044579..54046953,2	K562	blood:
6	chr5:54049192..54051114-chr5:54052944..54055675,3	K562	blood:
7	chr5:54047842..54051825-chr5:54059537..54062884,3	K562	blood:
8	chr5:54037020..54040567-chr5:54043537..54047094,3	MCF-7	breast:
9	chr5:54049192..54051114-chr5:54052944..54055675,3	K562	blood:
10	chr5:54037020..54040567-chr5:54043537..54047094,3	MCF-7	breast:
11	chr5:54044170..54046541-chr5:54049727..54052446,2	MCF-7	breast:
12	chr5:53609481..53612376-chr5:54030629..54032657,2	K562	blood:
13	chr5:54049724..54052539-chr5:54057510..54059343,2	K562	blood:
14	chr5:54048212..54050692-chr5:54052944..54054677,2	K562	blood:
15	chr5:54066799..54068824-chr5:54069202..54071627,2	K562	blood:
16	chr5:54053223..54055714-chr5:54058237..54060813,3	K562	blood:
17	chr5:54053223..54055714-chr5:54058237..54060813,3	K562	blood:
18	chr5:54017504..54021673-chr5:54022029..54028384,8	K562	blood:
19	chr5:54044930..54047645-chr5:54048300..54051015,2	K562	blood:
20	chr5:54061560..54063270-chr5:54063643..54065154,2	K562	blood:
21	chr5:53841259..53841985-chr5:54038209..54039072,2	MCF-7	breast:
22	chr5:54037843..54041857-chr5:54043536..54048349,6	K562	blood:
23	chr5:54027207..54029848-chr5:54032087..54034780,2	K562	blood:
24	chr5:54102068..54104903-chr5:54105238..54107823,3	K562	blood:
25	chr5:54066799..54068824-chr5:54069202..54071627,2	K562	blood:
26	chr5:53569316..53571436-chr5:54037174..54039171,2	K562	blood:
27	chr5:54049724..54052539-chr5:54057510..54059343,2	K562	blood:
28	chr5:54040322..54042008-chr5:54061113..54064039,2	K562	blood:
29	chr5:54036001..54038527-chr5:54062839..54065440,2	MCF-7	breast:
30	chr5:54039960..54041992-chr5:54042143..54044677,2	K562	blood:
31	chr5:54053223..54055714-chr5:54058772..54060813,2	K562	blood:
32	chr5:53813350..53815474-chr5:54061824..54064648,2	MCF-7	breast:
33	chr5:54061560..54063270-chr5:54063643..54065154,2	K562	blood:
34	chr5:53812268..53814960-chr5:54041334..54044388,3	MCF-7	breast:
35	chr5:54024735..54028634-chr5:54029831..54032905,3	K562	blood:
36	chr5:54058549..54060576-chr5:54060806..54063597,3	K562	blood:
37	chr5:54037732..54040168-chr5:54049770..54052180,2	MCF-7	breast:
38	chr5:54098223..54100100-chr5:54101975..54104817,2	MCF-7	breast:
39	chr5:54037843..54041857-chr5:54043536..54048349,6	K562	blood:
40	chr5:53965327..53967848-chr5:54025605..54028279,2	MCF-7	breast:
41	chr5:54024735..54028634-chr5:54029831..54032905,3	K562	blood:
42	chr5:54036001..54038527-chr5:54062839..54065440,2	MCF-7	breast:
43	chr5:54040322..54042008-chr5:54061113..54064039,2	K562	blood:
44	chr5:54022408..54025338-chr5:54027212..54029464,3	K562	blood:
45	chr5:53812995..53814543-chr5:54037974..54039139,11	MCF-7	breast:
46	chr5:53813072..53814349-chr5:54064617..54065503,4	MCF-7	breast:
47	chr5:54021789..54023863-chr5:54032643..54034362,3	K562	blood:
48	chr5:54014127..54017064-chr5:54035440..54037239,2	K562	blood:
49	chr5:53812258..53815199-chr5:54063024..54066576,5	MCF-7	breast:
50	chr5:54037843..54039936-chr5:54044579..54046953,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-45H22.3.1-3	chr5:54033833-54034194	NONHSAT101454
2	lnc-RP11-45H22.3.1-1	chr5:54039687-54040086	NR_104658
3	lnc-RP11-45H22.3.1-3	chr5:54025777-54025893	NONHSAT101454
4	lnc-RP11-45H22.3.1-4	chr5:54034752-54034945	l_2920_chr5:53991744-54034945_placenta

No data

Variant related genes	Relation type
ENSG00000178996	chromatin interactions

Extended variants
information (count: 3119 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3119 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1445841	chr5:54025701-54025702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150891422	chr5:54025742-54025743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557871067	chr5:54025761-54025762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6872140	chr5:54025811-54025812	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs538869530	chr5:54025840-54025841	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs139414062	chr5:54025852-54025853	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs149980438	chr5:54025865-54025866	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs531642212	chr5:54025870-54025871	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs538802204	chr5:54025899-54025900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547171502	chr5:54025914-54025915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544472345	chr5:54025968-54025969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181771439	chr5:54026034-54026035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6450243	chr5:54026088-54026089	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs201799609	chr5:54026109-54026110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561383419	chr5:54026124-54026125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75864276	chr5:54026131-54026132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10036814	chr5:54026147-54026148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7713239	chr5:54026167-54026168	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145218849	chr5:54026183-54026184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187299784	chr5:54026194-54026195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570407632	chr5:54026195-54026196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559977281	chr5:54026235-54026236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6893796	chr5:54026239-54026240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6877012	chr5:54026258-54026259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563684466	chr5:54026283-54026284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190842872	chr5:54026288-54026289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552414645	chr5:54026318-54026319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141286056	chr5:54026330-54026331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375747186	chr5:54026332-54026333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200160674	chr5:54026333-54026334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568424010	chr5:54026336-54026337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528565111	chr5:54026349-54026350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12523476	chr5:54026367-54026368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565489812	chr5:54026379-54026380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373512216	chr5:54026386-54026387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553966097	chr5:54026403-54026404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572413590	chr5:54026419-54026420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536148322	chr5:54026436-54026437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13189375	chr5:54026446-54026447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201186415	chr5:54026448-54026449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56359439	chr5:54026466-54026467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528461642	chr5:54026482-54026483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548045881	chr5:54026536-54026537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74708617	chr5:54026566-54026567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537078220	chr5:54026588-54026589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115427047	chr5:54026682-54026683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146821004	chr5:54026683-54026684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180898658	chr5:54026717-54026718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553608368	chr5:54026737-54026738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575046781	chr5:54026772-54026773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
2	chr5:54025600-54026200	Enhancers	Fetal Heart	heart
3	chr5:54026200-54031600	Weak transcription	Fetal Heart	heart
4	chr5:54027400-54035800	Weak transcription	Primary B cells from cord blood	blood
5	chr5:54029000-54029400	Enhancers	NHDF-Ad	bronchial
6	chr5:54029400-54031600	Weak transcription	NHDF-Ad	bronchial
7	chr5:54031000-54031600	Enhancers	K562	blood
8	chr5:54031600-54032400	Enhancers	NHDF-Ad	bronchial
9	chr5:54031600-54032600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:54031600-54032600	Enhancers	Fetal Heart	heart
11	chr5:54031600-54032600	Flanking Active TSS	K562	blood
12	chr5:54031800-54032000	Enhancers	Right Ventricle	heart
13	chr5:54031800-54032600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:54031800-54032600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:54031800-54034200	Enhancers	Fetal Lung	lung
16	chr5:54032000-54032200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:54032000-54032600	Enhancers	Fetal Stomach	stomach
18	chr5:54032400-54032600	Enhancers	Fetal Intestine Small	intestine
19	chr5:54032400-54032800	Active TSS	NHDF-Ad	bronchial
20	chr5:54032600-54033800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:54032600-54033800	Weak transcription	Right Ventricle	heart
22	chr5:54032600-54034000	Weak transcription	Fetal Stomach	stomach
23	chr5:54032600-54034000	Active TSS	K562	blood
24	chr5:54032600-54037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:54032600-54038200	Weak transcription	Fetal Heart	heart
26	chr5:54032600-54038800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:54032800-54033000	Flanking Active TSS	NHDF-Ad	bronchial
28	chr5:54032800-54034000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:54033000-54033800	Active TSS	NHDF-Ad	bronchial
30	chr5:54033600-54033800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:54033600-54033800	Active TSS	NHLF	lung
32	chr5:54033600-54034800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:54033800-54034000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:54033800-54034200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:54033800-54034200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:54033800-54034200	Enhancers	Fetal Muscle Leg	muscle
37	chr5:54033800-54034200	Enhancers	HSMM	muscle
38	chr5:54033800-54034200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr5:54033800-54034200	Flanking Active TSS	NHLF	lung
40	chr5:54033800-54034400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:54033800-54034400	Enhancers	Adipose Nuclei	Adipose
42	chr5:54033800-54034400	Enhancers	Esophagus	oesophagus
43	chr5:54033800-54034400	Enhancers	Gastric	stomach
44	chr5:54033800-54034400	Enhancers	Left Ventricle	heart
45	chr5:54033800-54034400	Enhancers	Psoas Muscle	Psoas
46	chr5:54033800-54034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:54033800-54034600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:54033800-54034600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:54033800-54034600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr5:54033800-54034600	Enhancers	Muscle Satellite Cultured Cells	--

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