Variant report

Variant	nsv968965
Chromosome Location	chr5:97728233-97729815
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	POLR2A	chr5:97729046-97729095	A549	lung:	n/a	n/a
2	POLR2A	chr5:97728881-97728991	A549	lung:	n/a	n/a
3	POLR2A	chr5:97728785-97729212	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:97728396-97728541	Gliobla	brain:	n/a	n/a
5	POLR2A	chr5:97729139-97729232	A549	lung:	n/a	n/a
6	POLR2A	chr5:97729127-97729238	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:97729001-97729021	Gliobla	brain:	n/a	n/a
8	POLR2A	chr5:97728876-97729055	A549	lung:	n/a	n/a
9	POLR2A	chr5:97728397-97728453	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:97728833-97729040	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:97729106-97729258	A549	lung:	n/a	n/a
12	POLR2A	chr5:97728763-97729271	MCF-7	breast:	n/a	n/a
13	POLR2A	chr5:97729124-97729234	A549	lung:	n/a	n/a
14	POLR2A	chr5:97728871-97729038	A549	lung:	n/a	n/a
15	POLR2A	chr5:97729129-97729230	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:97728763-97729333	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:97729038-97729111	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:97728940-97728976	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:97728642-97729101	A549	lung:	n/a	n/a
20	POLR2A	chr5:97729159-97729222	A549	lung:	n/a	n/a
21	ZBTB33	chr5:97728793-97729102	K562	blood:	n/a	n/a

Variant related genes	Relation type
KRT8P32	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572244809	chr5:97728266-97728267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545639278	chr5:97728328-97728329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564410009	chr5:97728359-97728360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531475243	chr5:97728416-97728417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549382980	chr5:97728426-97728427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76763303	chr5:97728433-97728434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150902618	chr5:97728437-97728438	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547519909	chr5:97728440-97728441	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369980824	chr5:97728460-97728461	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565631464	chr5:97728466-97728467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533572436	chr5:97728470-97728471	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551652017	chr5:97728475-97728476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137919294	chr5:97728480-97728481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570376836	chr5:97728511-97728512	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575704416	chr5:97728518-97728519	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373026170	chr5:97728556-97728557	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567708354	chr5:97728574-97728575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534698852	chr5:97728580-97728581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375732952	chr5:97728586-97728587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185455364	chr5:97728600-97728601	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191745542	chr5:97728618-97728619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546001751	chr5:97728641-97728642	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139389801	chr5:97728677-97728678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377254738	chr5:97728694-97728695	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543342320	chr5:97728700-97728701	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35300816	chr5:97728701-97728702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561646421	chr5:97728733-97728734	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544533982	chr5:97728793-97728794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528899358	chr5:97728802-97728803	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181638268	chr5:97728805-97728806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559418325	chr5:97728811-97728812	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532850518	chr5:97728815-97728816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369175809	chr5:97728819-97728820	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551439833	chr5:97728868-97728869	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187195017	chr5:97728875-97728876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192176376	chr5:97728903-97728904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549737254	chr5:97728926-97728927	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567918471	chr5:97728958-97728959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535020709	chr5:97728969-97728970	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529928226	chr5:97728972-97728973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571729915	chr5:97729000-97729001	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73159260	chr5:97729030-97729031	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12517476	chr5:97729045-97729046	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575881136	chr5:97729058-97729059	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543205919	chr5:97729078-97729079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377364104	chr5:97729140-97729141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115115282	chr5:97729168-97729169	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12520566	chr5:97729185-97729186	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144324302	chr5:97729258-97729259	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182349437	chr5:97729259-97729260	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97721400-97733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:97727800-97728800	Weak transcription	Gastric	stomach
3	chr5:97728200-97730200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97728200-97734400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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