Variant report

Variant	nsv968858
Chromosome Location	chr5:147544134-147548438
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	CEBPB	chr5:147546558-147546836	HepG2	liver:	n/a	chr5:147546815-147546827
2	CEBPB	chr5:147547846-147548123	HepG2	liver:	n/a	n/a
3	CEBPB	chr5:147547914-147548136	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr5:147546480-147546908	T-47D	breast:	n/a	n/a
5	GATA3	chr5:147546426-147546977	T-47D	breast:	n/a	n/a
6	GATA3	chr5:147546418-147546885	T-47D	breast:	n/a	n/a
7	GATA3	chr5:147545834-147546169	T-47D	breast:	n/a	chr5:147545945-147545955 chr5:147546009-147546020
8	GATA3	chr5:147545886-147546037	SH-SY5Y	brain:	n/a	chr5:147545945-147545955 chr5:147546009-147546020
9	GATA3	chr5:147545497-147546442	MCF-7	breast:	n/a	chr5:147545945-147545955 chr5:147545641-147545657 chr5:147545641-147545657 chr5:147545639-147545660 chr5:147546009-147546020
10	GATA3	chr5:147545484-147546191	T-47D	breast:	n/a	chr5:147545945-147545955 chr5:147545641-147545657 chr5:147545641-147545657 chr5:147545639-147545660 chr5:147546009-147546020
11	JUND	chr5:147544984-147546952	T-47D	breast:	n/a	n/a
12	MYC	chr5:147546332-147546338	K562	blood:	n/a	n/a
13	POLR2A	chr5:147545539-147545604	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147535322..147539749-chr5:147540540..147544589,4	MCF-7	breast:

Variant related genes	Relation type
SPINK14	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538071603	chr5:147545068-147545069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs10075227	chr5:147545078-147545079	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs10065999	chr5:147545100-147545101	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs187231601	chr5:147545161-147545162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs367729264	chr5:147545197-147545198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs374170167	chr5:147545216-147545217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147458734	chr5:147545290-147545291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs6894796	chr5:147545324-147545325	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs377275132	chr5:147545344-147545345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7734032	chr5:147545491-147545492	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150946046	chr5:147545502-147545503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs570613999	chr5:147545504-147545505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs140775653	chr5:147545539-147545540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs543652157	chr5:147545547-147545548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192098023	chr5:147545577-147545578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529546867	chr5:147545604-147545605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541321870	chr5:147545625-147545626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2191680	chr5:147545635-147545636	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs7710833	chr5:147545681-147545682	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75226664	chr5:147545708-147545709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76922049	chr5:147545724-147545725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs78968017	chr5:147545760-147545761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs550001929	chr5:147545768-147545769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535098661	chr5:147545773-147545774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7730524	chr5:147545863-147545864	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7710036	chr5:147545917-147545918	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182878281	chr5:147545936-147545937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73798125	chr5:147545953-147545954	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374898618	chr5:147545961-147545962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs554915921	chr5:147545985-147545986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539484768	chr5:147545995-147545996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs558126776	chr5:147546001-147546002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs73798126	chr5:147546028-147546029	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543464917	chr5:147546034-147546035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs141889949	chr5:147546063-147546064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555551267	chr5:147546115-147546116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573863100	chr5:147546228-147546229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs185979478	chr5:147546272-147546273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs369437274	chr5:147546373-147546374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs559828544	chr5:147546381-147546382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533667900	chr5:147546384-147546385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs9325077	chr5:147546399-147546400	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs545526843	chr5:147546439-147546440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs9285669	chr5:147546452-147546453	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs531441361	chr5:147546458-147546459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115634192	chr5:147546530-147546531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs190048355	chr5:147546531-147546532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs529106805	chr5:147546550-147546551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs182408113	chr5:147546593-147546594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs188064344	chr5:147546647-147546648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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