Variant report

Variant	esv275474
Chromosome Location	chr5:101463177-101473175
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	FOXA1	chr5:101467350-101467672	HepG2	liver:	n/a	n/a
2	FOXA2	chr5:101467257-101467915	A549	lung:	n/a	n/a
3	FOXA2	chr5:101467341-101467725	A549	lung:	n/a	n/a
4	MAFK	chr5:101464669-101464707	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:101467458-101467498	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr5:101467342-101467583	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNA5SP188	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554853943	chr5:101466062-101466063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566564835	chr5:101466081-101466082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182217712	chr5:101466136-101466137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558222245	chr5:101466142-101466143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372521652	chr5:101466166-101466167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538941203	chr5:101466167-101466168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545342090	chr5:101466173-101466174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569535359	chr5:101466185-101466186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376180884	chr5:101466195-101466196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76454449	chr5:101466221-101466222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553744790	chr5:101466228-101466229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187562776	chr5:101466262-101466263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112509742	chr5:101466286-101466287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193268333	chr5:101466306-101466307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141074047	chr5:101466325-101466326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111375937	chr5:101466336-101466337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76774362	chr5:101466344-101466345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538115078	chr5:101466369-101466370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146959721	chr5:101466378-101466379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568813061	chr5:101466382-101466383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531460777	chr5:101466385-101466386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562801515	chr5:101466404-101466405	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148017702	chr5:101466407-101466408	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62370426	chr5:101466425-101466426	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548364749	chr5:101466488-101466489	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566676718	chr5:101466489-101466490	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs34275075	chr5:101466507-101466508	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533845623	chr5:101466549-101466550	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113177796	chr5:101466557-101466558	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs425813	chr5:101466568-101466569	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543652585	chr5:101466583-101466584	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370542680	chr5:101466592-101466593	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs111862073	chr5:101466615-101466616	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183318009	chr5:101466623-101466624	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575520719	chr5:101466635-101466636	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536554655	chr5:101466642-101466643	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77248639	chr5:101466668-101466669	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573121087	chr5:101466673-101466674	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112776429	chr5:101466686-101466687	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141679555	chr5:101466689-101466690	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577316879	chr5:101466715-101466716	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544587056	chr5:101466716-101466717	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562749725	chr5:101466725-101466726	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532527504	chr5:101466727-101466728	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529969292	chr5:101466736-101466737	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11959329	chr5:101466743-101466744	Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527466772	chr5:101466746-101466747	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552114044	chr5:101466763-101466764	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559767589	chr5:101466765-101466766	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550590980	chr5:101466767-101466768	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101466000-101466600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:101466000-101466600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:101466000-101467000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:101466400-101466800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:101466400-101467000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr5:101466400-101467200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:101466600-101467000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:101466600-101467000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:101467000-101467200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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