Variant report

Variant	esv1829644
Chromosome Location	chr5:97487008-97492056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:97490515..97493248-chr5:97494183..97497100,2	K562	blood:

Variant related genes	Relation type
ENSG00000248901	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61330450	chr5:97487024-97487025	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148846087	chr5:97487031-97487032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs573442216	chr5:97487052-97487053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369059714	chr5:97487098-97487099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559249770	chr5:97487131-97487132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs58013418	chr5:97487241-97487242	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6888555	chr5:97487243-97487244	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs74712285	chr5:97487308-97487309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs10044333	chr5:97487315-97487316	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542273495	chr5:97487342-97487343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10044352	chr5:97487371-97487372	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189527578	chr5:97487383-97487384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550688947	chr5:97487448-97487449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143479410	chr5:97487453-97487454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571198424	chr5:97487456-97487457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532483657	chr5:97487483-97487484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550285543	chr5:97487501-97487502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568869405	chr5:97487576-97487577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546157025	chr5:97487615-97487616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554678388	chr5:97487711-97487712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183043334	chr5:97487752-97487753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10476735	chr5:97487772-97487773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559239154	chr5:97487775-97487776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577442826	chr5:97487791-97487792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534650046	chr5:97487800-97487801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544922033	chr5:97487804-97487805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556592470	chr5:97487819-97487820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574747035	chr5:97487820-97487821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567441562	chr5:97487848-97487849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531629583	chr5:97487867-97487868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541860627	chr5:97487878-97487879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61598173	chr5:97487897-97487898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188428996	chr5:97487898-97487899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9314222	chr5:97488007-97488008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs535670068	chr5:97488032-97488033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147986641	chr5:97488034-97488035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532294970	chr5:97488042-97488043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140655466	chr5:97488071-97488072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562642066	chr5:97488073-97488074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527392475	chr5:97488080-97488081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59463207	chr5:97488140-97488141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6889798	chr5:97488141-97488142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs548221594	chr5:97488170-97488171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566554744	chr5:97488244-97488245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144889283	chr5:97488247-97488248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192697913	chr5:97488251-97488252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138752915	chr5:97488260-97488261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538060499	chr5:97488267-97488268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62366792	chr5:97488276-97488277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536311858	chr5:97488286-97488287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97485600-97487400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97487400-97488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97487400-97499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:97488600-97489400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:97489400-97491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:97491400-97492200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:97491600-97492200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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