Variant report

Variant	esv1799741
Chromosome Location	chr5:106513501-106526602
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	CEBPB	chr5:106521516-106521822	HepG2	liver:	n/a	n/a
2	CHD2	chr5:106517883-106517892	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F4	chr5:106514550-106514625	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr5:106519689-106520070	HUVEC	blood vessel:	n/a	chr5:106519858-106519867 chr5:106519859-106519866 chr5:106519858-106519866 chr5:106519856-106519867
5	FOS	chr5:106519849-106520049	MCF10A-Er-Src	breast:	n/a	chr5:106519858-106519867 chr5:106519859-106519866 chr5:106519858-106519866 chr5:106519856-106519867
6	FOS	chr5:106519757-106519971	MCF10A-Er-Src	breast:	n/a	chr5:106519858-106519867 chr5:106519859-106519866 chr5:106519858-106519866 chr5:106519856-106519867
7	POLR2A	chr5:106516947-106517021	K562	blood:	n/a	n/a
8	POLR2A	chr5:106513586-106513596	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:106526276-106526421	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:106514792-106514794	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr5:106515534-106515541	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr5:106519794-106520046	MCF10A-Er-Src	breast:	n/a	chr5:106519976-106519983 chr5:106519858-106519867 chr5:106519857-106519866
13	ZNF384	chr5:106516817-106516974	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106525438..106528218-chr5:106529605..106532112,2	MCF-7	breast:

Variant related genes	Relation type
PSMC1P5	TF binding region
ENSG00000250273	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183866790	chr5:106525448-106525449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573771385	chr5:106525464-106525465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145016822	chr5:106525471-106525472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114523442	chr5:106525477-106525478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186822237	chr5:106525479-106525480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573126647	chr5:106525492-106525493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76422518	chr5:106525494-106525495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565398475	chr5:106525503-106525504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541632424	chr5:106525538-106525539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201193650	chr5:106525545-106525546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs386690840	chr5:106525547-106525548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72780184	chr5:106525548-106525549	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561500211	chr5:106525562-106525563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530335555	chr5:106525565-106525566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566600680	chr5:106525588-106525589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560198577	chr5:106525599-106525600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187264522	chr5:106525601-106525602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192876265	chr5:106525615-106525616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569057139	chr5:106525669-106525670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201895952	chr5:106525684-106525685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537773953	chr5:106525724-106525725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376494903	chr5:106525766-106525767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567878365	chr5:106525801-106525802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs74785795	chr5:106525805-106525806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs397831293	chr5:106525811-106525812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199904784	chr5:106525812-106525813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200499251	chr5:106525817-106525818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533757468	chr5:106525850-106525851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185223666	chr5:106525867-106525868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542200362	chr5:106525882-106525883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190065458	chr5:106525888-106525889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182170712	chr5:106525956-106525957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563969966	chr5:106525977-106525978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558955924	chr5:106525982-106525983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575832778	chr5:106526002-106526003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544885455	chr5:106526008-106526009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs72782142	chr5:106526029-106526030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56379720	chr5:106526071-106526072	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540840988	chr5:106526087-106526088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372772694	chr5:106526112-106526113	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79921245	chr5:106526113-106526114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559984286	chr5:106526166-106526167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141791349	chr5:106526172-106526173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564588573	chr5:106526177-106526178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536874045	chr5:106526199-106526200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189319681	chr5:106526214-106526215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1345636	chr5:106526222-106526223	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150576533	chr5:106526258-106526259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568015529	chr5:106526292-106526293	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538228799	chr5:106526301-106526302	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links