Variant report

Variant	nsv524260
Chromosome Location	chr5:105876806-105904745
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	BATF	chr5:105889044-105889346	GM12878	blood:	n/a	n/a
2	BATF	chr5:105889076-105889285	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:105889001-105889386	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:105887552-105887806	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:105889035-105889258	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:105891864-105892159	IMR90	lung:	n/a	n/a
7	CEBPB	chr5:105891848-105892093	HepG2	liver:	n/a	n/a
8	CEBPB	chr5:105902109-105902237	A549	lung:	n/a	n/a
9	CEBPB	chr5:105893061-105893350	IMR90	lung:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
10	CEBPB	chr5:105893027-105893313	A549	lung:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
11	CEBPB	chr5:105893053-105893322	HepG2	liver:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
12	CEBPB	chr5:105891868-105892016	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:105897500-105897650	A549	lung:	n/a	n/a
14	CTCF	chr5:105897560-105897710	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr5:105897500-105897650	GM12875	blood:	n/a	n/a
16	CTCF	chr5:105897580-105897730	HEK293	kidney:	n/a	n/a
17	CTCF	chr5:105897580-105897730	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:105881340-105881490	GM12873	blood:	n/a	n/a
19	CTCF	chr5:105897680-105897830	RPTEC	kidney:	n/a	n/a
20	CTCF	chr5:105887178-105887223	Kidney_OC	kidney:	n/a	n/a
21	EBF1	chr5:105889071-105889232	GM12878	blood:	n/a	n/a
22	ELK1	chr5:105894416-105894420	Hela-S3	cervix:	n/a	n/a
23	EP300	chr5:105880771-105881594	SK-N-SH	brain:	n/a	n/a
24	EP300	chr5:105889087-105889216	GM12878	blood:	n/a	n/a
25	EP300	chr5:105889059-105889244	GM12878	blood:	n/a	n/a
26	FOS	chr5:105881079-105881366	MCF10A-Er-Src	breast:	n/a	chr5:105881160-105881171
27	FOS	chr5:105881049-105881317	MCF10A-Er-Src	breast:	n/a	chr5:105881160-105881171
28	FOS	chr5:105881028-105881350	MCF10A-Er-Src	breast:	n/a	chr5:105881160-105881171
29	FOS	chr5:105881052-105881300	MCF10A-Er-Src	breast:	n/a	chr5:105881160-105881171
30	FOS	chr5:105881019-105881400	HUVEC	blood vessel:	n/a	chr5:105881160-105881171
31	FOSL2	chr5:105888973-105889329	HepG2	liver:	n/a	n/a
32	FOSL2	chr5:105880890-105881584	SK-N-SH	brain:	n/a	n/a
33	GABPA	chr5:105889071-105889300	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr5:105889101-105889206	Hela-S3	cervix:	n/a	n/a
35	GATA2	chr5:105889065-105889288	K562	blood:	n/a	n/a
36	GATA3	chr5:105880865-105881580	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr5:105880845-105881672	SK-N-SH	brain:	n/a	n/a
38	HEY1	chr5:105889059-105889244	HepG2	liver:	n/a	n/a
39	HEY1	chr5:105889068-105889236	K562	blood:	n/a	n/a
40	HEY1	chr5:105889097-105889208	HepG2	liver:	n/a	n/a
41	JUND	chr5:105880877-105881483	SK-N-SH	brain:	n/a	n/a
42	JUND	chr5:105889083-105889222	HepG2	liver:	n/a	n/a
43	JUND	chr5:105889080-105889204	HepG2	liver:	n/a	n/a
44	JUND	chr5:105880903-105881421	SK-N-SH	brain:	n/a	n/a
45	KAP1	chr5:105900167-105900367	K562	blood:	n/a	n/a
46	MAFF	chr5:105901767-105902076	HepG2	liver:	n/a	n/a
47	MAFK	chr5:105901776-105902085	HepG2	liver:	n/a	chr5:105901948-105901959 chr5:105901947-105901962 chr5:105901947-105901958 chr5:105901947-105901963 chr5:105901947-105901958 chr5:105901907-105901918 chr5:105901946-105901960 chr5:105901948-105901959 chr5:105901907-105901918
48	MAFK	chr5:105901759-105902098	HepG2	liver:	n/a	chr5:105901948-105901959 chr5:105901947-105901962 chr5:105901947-105901958 chr5:105901947-105901963 chr5:105901947-105901958 chr5:105901907-105901918 chr5:105901946-105901960 chr5:105901948-105901959 chr5:105901907-105901918
49	MAFK	chr5:105901847-105902047	Hela-S3	cervix:	n/a	chr5:105901948-105901959 chr5:105901947-105901962 chr5:105901947-105901958 chr5:105901947-105901963 chr5:105901947-105901958 chr5:105901907-105901918 chr5:105901946-105901960 chr5:105901948-105901959 chr5:105901907-105901918
50	MAFK	chr5:105901798-105902086	IMR90	lung:	n/a	chr5:105901948-105901959 chr5:105901947-105901962 chr5:105901947-105901958 chr5:105901947-105901963 chr5:105901947-105901958 chr5:105901907-105901918 chr5:105901946-105901960 chr5:105901948-105901959 chr5:105901907-105901918

Variant related genes	Relation type
ENSG00000250145	TF binding region
ENSG00000252337	TF binding region

Extended variants
information (count: 141 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11739877	chr5:105876806-105876807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550968860	chr5:105876877-105876878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141896037	chr5:105876878-105876879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548811225	chr5:105876892-105876893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150602324	chr5:105876906-105876907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372176695	chr5:105876915-105876916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570316605	chr5:105876921-105876922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546734421	chr5:105876924-105876925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566616242	chr5:105876936-105876937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186704244	chr5:105876993-105876994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139705042	chr5:105876994-105876995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558860736	chr5:105877009-105877010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191491237	chr5:105877036-105877037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs143698485	chr5:105877057-105877058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183846706	chr5:105877081-105877082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574534053	chr5:105877099-105877100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62379273	chr5:105877153-105877154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192325621	chr5:105877154-105877155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs3905441	chr5:105878588-105878589	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs540885221	chr5:105878594-105878595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185449877	chr5:105878610-105878611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs140835762	chr5:105878632-105878633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577210378	chr5:105878650-105878651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs189112519	chr5:105878652-105878653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562873385	chr5:105878654-105878655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531814549	chr5:105878679-105878680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs145150602	chr5:105878759-105878760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs570791196	chr5:105878777-105878778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146891748	chr5:105878782-105878783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562223977	chr5:105878838-105878839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140657872	chr5:105878847-105878848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs533928320	chr5:105878884-105878885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547823174	chr5:105878910-105878911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs575900409	chr5:105878972-105878973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs571114067	chr5:105878976-105878977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532823644	chr5:105878989-105878990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs75292746	chr5:105879007-105879008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs564706286	chr5:105879014-105879015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs181775737	chr5:105879034-105879035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150444644	chr5:105879100-105879101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs138272915	chr5:105879112-105879113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs565488138	chr5:105879113-105879114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs534502409	chr5:105879120-105879121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115585459	chr5:105879124-105879125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs577849198	chr5:105879130-105879131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs369138786	chr5:105879131-105879132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs545902620	chr5:105879157-105879158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556486845	chr5:105879202-105879203	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186509969	chr5:105879215-105879216	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542297374	chr5:105879219-105879220	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105871600-105877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:105877000-105877200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:105879200-105880600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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