Variant report

Variant	nsv598246
Chromosome Location	chr5:57777623-57785273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:57779800-57779950	GM12872	blood:	n/a	n/a
2	CTCF	chr5:57778138-57778176	MCF-7	breast:	n/a	n/a
3	CTCF	chr5:57778563-57778631	GM19239	blood:	n/a	n/a
4	EBF1	chr5:57780420-57780784	GM12878	blood:	n/a	n/a
5	MAX	chr5:57778447-57778816	NB4	blood:	n/a	n/a
6	MYC	chr5:57780443-57780669	NB4	blood:	n/a	n/a
7	MYC	chr5:57777907-57777986	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr5:57778041-57778085	MCF-7	breast:	n/a	n/a
9	MYC	chr5:57783211-57783216	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr5:57777878-57777886	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:57777721-57778089	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr5:57778241-57778854	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr5:57777589-57778108	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr5:57778165-57778201	Gliobla	brain:	n/a	n/a
15	POLR2A	chr5:57777914-57778090	A549	lung:	n/a	n/a
16	POLR2A	chr5:57778165-57778994	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr5:57778336-57778445	A549	lung:	n/a	n/a
18	SPI1	chr5:57782095-57782544	HL-60	blood:	n/a	chr5:57782321-57782334
19	SPI1	chr5:57780418-57780623	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:55796962..55798586-chr5:57782622..57784143,2	MCF-7	breast:

Variant related genes	Relation type
GAPT	TF binding region

Extended variants
information (count: 325 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139220636	chr5:57777623-57777624	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76930406	chr5:57777636-57777637	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183989703	chr5:57777651-57777652	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532734749	chr5:57777674-57777675	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114694147	chr5:57777681-57777682	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571079804	chr5:57777686-57777687	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149926279	chr5:57777693-57777694	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144064787	chr5:57777713-57777714	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547162478	chr5:57777746-57777747	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139850344	chr5:57777761-57777762	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535930976	chr5:57777791-57777792	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557461280	chr5:57777820-57777821	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569387495	chr5:57777821-57777822	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113405389	chr5:57777855-57777856	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112219980	chr5:57777861-57777862	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371907156	chr5:57777934-57777935	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551854508	chr5:57777941-57777942	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558184594	chr5:57777970-57777971	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573087319	chr5:57778007-57778008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546144923	chr5:57778018-57778019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528516459	chr5:57778020-57778021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540196282	chr5:57778021-57778022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555519713	chr5:57778023-57778024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573728469	chr5:57778026-57778027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113038523	chr5:57778033-57778034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112240738	chr5:57778045-57778046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544020569	chr5:57778051-57778052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562205274	chr5:57778055-57778056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532867397	chr5:57778060-57778061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544602338	chr5:57778079-57778080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559933905	chr5:57778106-57778107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112942115	chr5:57778126-57778127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528766946	chr5:57778141-57778142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547006475	chr5:57778143-57778144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568756834	chr5:57778191-57778192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529474242	chr5:57778206-57778207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs118068018	chr5:57778236-57778237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117844787	chr5:57778288-57778289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554585665	chr5:57778292-57778293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188024906	chr5:57778359-57778360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370044104	chr5:57778393-57778394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180788638	chr5:57778413-57778414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566784357	chr5:57778416-57778417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115354014	chr5:57778451-57778452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112603921	chr5:57778471-57778472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs36113461	chr5:57778486-57778487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573891193	chr5:57778504-57778505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543958346	chr5:57778535-57778536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16888208	chr5:57778669-57778670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs832623	chr5:57778708-57778709	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57773200-57785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:57774200-57779000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:57774200-57779400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:57774200-57780000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:57774400-57779000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:57776800-57778000	ZNF genes & repeats	Fetal Kidney	kidney
7	chr5:57776800-57778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:57777000-57778200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:57777200-57778600	Enhancers	Spleen	Spleen
10	chr5:57777400-57777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:57777400-57778200	Weak transcription	Gastric	stomach
12	chr5:57778200-57782800	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:57778400-57778600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:57778400-57779400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:57778600-57778800	Weak transcription	Spleen	Spleen
16	chr5:57778600-57779400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:57779000-57779200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:57779000-57780400	Enhancers	Primary B cells from cord blood	blood
19	chr5:57779000-57782400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:57779200-57779800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:57779400-57780000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:57779400-57783600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:57779800-57780400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:57780000-57781200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:57780200-57780400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:57780400-57781000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr5:57780400-57783000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:57781000-57782800	Enhancers	Primary B cells from cord blood	blood
29	chr5:57781200-57785000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:57781600-57781800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:57782400-57782800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:57782800-57783200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:57782800-57785400	Weak transcription	Primary B cells from cord blood	blood
34	chr5:57782800-57785400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:57783000-57785800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:57783200-57784800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:57783600-57784800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:57784800-57785000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:57784800-57785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:57784800-57786000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr5:57785000-57785400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:57785000-57787000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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