Variant report

Variant	nsv461260
Chromosome Location	chr4:10272429-10273329
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	chr4:10273284-10273382	K562	blood:	n/a	n/a
2	CTCF	chr4:10273213-10273430	K562	blood:	n/a	n/a
3	E2F4	chr4:10273012-10273166	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10271663..10274322-chr4:10278537..10280895,2	K562	blood:
2	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
3	chr4:10271663..10276718-chr4:10277557..10282432,8	K562	blood:
4	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:

Variant related genes	Relation type
ENSG00000250074	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6833292	chr4:10272429-10272430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149746169	chr4:10272460-10272461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570662531	chr4:10272472-10272473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534574472	chr4:10272522-10272523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7691156	chr4:10272537-10272538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190615390	chr4:10272544-10272545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544744320	chr4:10272570-10272571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7676442	chr4:10272591-10272592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10489074	chr4:10272605-10272606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs374269625	chr4:10272656-10272657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145670914	chr4:10272664-10272665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544698818	chr4:10272665-10272666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560166876	chr4:10272675-10272676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527621255	chr4:10272697-10272698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542935428	chr4:10272719-10272720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183239562	chr4:10272720-10272721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187740424	chr4:10272731-10272732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549908052	chr4:10272753-10272754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569269374	chr4:10272767-10272768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556680467	chr4:10272770-10272771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576227817	chr4:10272772-10272773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551395440	chr4:10272778-10272779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10489073	chr4:10272788-10272789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190648438	chr4:10272794-10272795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549269091	chr4:10272810-10272811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573819931	chr4:10272819-10272820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138323414	chr4:10272832-10272833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538068617	chr4:10272859-10272860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552551832	chr4:10272867-10272868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140980026	chr4:10272875-10272876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150144829	chr4:10272914-10272915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182831231	chr4:10272919-10272920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7696388	chr4:10272933-10272934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554313613	chr4:10272959-10272960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542600359	chr4:10272979-10272980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561177038	chr4:10273012-10273013	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576252912	chr4:10273016-10273017	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs577483723	chr4:10273017-10273018	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs543276113	chr4:10273022-10273023	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372554275	chr4:10273025-10273026	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs17407324	chr4:10273043-10273044	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs74920265	chr4:10273045-10273046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs551456868	chr4:10273074-10273075	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369482417	chr4:10273089-10273090	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs560166391	chr4:10273095-10273096	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs527687344	chr4:10273108-10273109	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs548929769	chr4:10273113-10273114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs567883050	chr4:10273123-10273124	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs538506768	chr4:10273126-10273127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138609075	chr4:10273130-10273131	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10262000-10273800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10267000-10273600	Weak transcription	Fetal Thymus	thymus
3	chr4:10268800-10273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:10269000-10273800	Weak transcription	HMEC	breast
5	chr4:10269200-10274600	Weak transcription	NHEK	skin
6	chr4:10269400-10274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:10271800-10277600	Weak transcription	K562	blood
8	chr4:10272200-10274000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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