Variant report

Variant	nsv980710
Chromosome Location	chr5:105878624-105881378
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	CTCF	chr5:105881340-105881490	GM12873	blood:	n/a	n/a
2	EP300	chr5:105880771-105881594	SK-N-SH	brain:	n/a	n/a
3	FOS	chr5:105881049-105881317	MCF10A-Er-Src	breast:	n/a	chr5:105881160-105881171
4	FOS	chr5:105881052-105881300	MCF10A-Er-Src	breast:	n/a	chr5:105881160-105881171
5	FOS	chr5:105881019-105881400	HUVEC	blood vessel:	n/a	chr5:105881160-105881171
6	FOS	chr5:105881028-105881350	MCF10A-Er-Src	breast:	n/a	chr5:105881160-105881171
7	FOS	chr5:105881079-105881366	MCF10A-Er-Src	breast:	n/a	chr5:105881160-105881171
8	FOSL2	chr5:105880890-105881584	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr5:105880865-105881580	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr5:105880845-105881672	SK-N-SH	brain:	n/a	n/a
11	JUND	chr5:105880903-105881421	SK-N-SH	brain:	n/a	n/a
12	JUND	chr5:105880877-105881483	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr5:105880845-105881629	SK-N-SH	brain:	n/a	n/a
14	NFIC	chr5:105880945-105881556	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr5:105880946-105881534	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr5:105880859-105881563	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr5:105880968-105881568	U87	brain:	n/a	n/a
18	POLR2A	chr5:105880343-105880472	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr5:105880943-105881595	U87	brain:	n/a	n/a
20	SETDB1	chr5:105878988-105879630	U2OS	brain:	n/a	n/a
21	TCF12	chr5:105880936-105881532	SK-N-SH	brain:	n/a	n/a
22	TCF12	chr5:105880859-105881564	SK-N-SH	brain:	n/a	n/a
23	TEAD4	chr5:105880977-105881516	SK-N-SH	brain:	n/a	n/a
24	ZNF274	chr5:105878567-105880168	NT2-D1	testis:	n/a	n/a
25	ZNF274	chr5:105878707-105879655	K562	blood:	n/a	n/a
26	ZNF274	chr5:105878850-105879637	H1-hESC	embryonic stem cell:	n/a	n/a

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

Extended variants
information (count: 103 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140835762	chr5:105878632-105878633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577210378	chr5:105878650-105878651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189112519	chr5:105878652-105878653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs562873385	chr5:105878654-105878655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531814549	chr5:105878679-105878680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs145150602	chr5:105878759-105878760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570791196	chr5:105878777-105878778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs146891748	chr5:105878782-105878783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562223977	chr5:105878838-105878839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140657872	chr5:105878847-105878848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533928320	chr5:105878884-105878885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547823174	chr5:105878910-105878911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575900409	chr5:105878972-105878973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571114067	chr5:105878976-105878977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs532823644	chr5:105878989-105878990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs75292746	chr5:105879007-105879008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564706286	chr5:105879014-105879015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs181775737	chr5:105879034-105879035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs150444644	chr5:105879100-105879101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138272915	chr5:105879112-105879113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs565488138	chr5:105879113-105879114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs534502409	chr5:105879120-105879121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs115585459	chr5:105879124-105879125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577849198	chr5:105879130-105879131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs369138786	chr5:105879131-105879132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545902620	chr5:105879157-105879158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs556486845	chr5:105879202-105879203	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs186509969	chr5:105879215-105879216	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542297374	chr5:105879219-105879220	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115547875	chr5:105879237-105879238	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs527928640	chr5:105879258-105879259	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541596936	chr5:105879279-105879280	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs564655226	chr5:105879335-105879336	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533647622	chr5:105879347-105879348	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs549524692	chr5:105879353-105879354	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs562900769	chr5:105879363-105879364	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs116680834	chr5:105879369-105879370	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs548712510	chr5:105879464-105879465	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs116811419	chr5:105879515-105879516	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200648431	chr5:105879529-105879530	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs188219976	chr5:105879530-105879531	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs6864980	chr5:105879563-105879564	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149581770	chr5:105879591-105879592	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs537311819	chr5:105879600-105879601	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs556286797	chr5:105879724-105879725	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529817662	chr5:105879730-105879731	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs576553686	chr5:105879763-105879764	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs535842058	chr5:105879796-105879797	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs555930710	chr5:105879815-105879816	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534724555	chr5:105879838-105879839	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105879200-105880600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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