Variant report

Variant	nsv436934
Chromosome Location	chr4:10270848-10276352
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	chr4:10274558-10275032	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr4:10273012-10273166	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:10274596-10275143	MCF10A-Er-Src	breast:	n/a	chr4:10274960-10274970 chr4:10274961-10274969 chr4:10274960-10274970
6	FOS	chr4:10274631-10275073	MCF10A-Er-Src	breast:	n/a	chr4:10274960-10274970 chr4:10274961-10274969 chr4:10274960-10274970
7	FOS	chr4:10274597-10275143	MCF10A-Er-Src	breast:	n/a	chr4:10274960-10274970 chr4:10274961-10274969 chr4:10274960-10274970
8	FOS	chr4:10274606-10275143	MCF10A-Er-Src	breast:	n/a	chr4:10274960-10274970 chr4:10274961-10274969 chr4:10274960-10274970
9	MAFF	chr4:10275736-10275972	HepG2	liver:	n/a	chr4:10275860-10275878
10	MAFK	chr4:10275735-10275992	HepG2	liver:	n/a	chr4:10275861-10275876
11	MAFK	chr4:10275729-10276017	HepG2	liver:	n/a	chr4:10275861-10275876
12	MYC	chr4:10274623-10275000	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr4:10274631-10275351	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:10274942-10274959	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr4:10274649-10274998	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr4:10274622-10275053	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr4:10274619-10274936	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr4:10274655-10274855	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10274788..10276860-chr4:10285063..10286717,2	K562	blood:
2	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
3	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
4	chr4:10271663..10276718-chr4:10277557..10282432,8	K562	blood:
5	chr4:10271663..10274322-chr4:10278537..10280895,2	K562	blood:

Variant related genes	Relation type
ENSG00000250074	TF binding region

Extended variants
information (count: 397 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10489076	chr4:10270848-10270849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34258142	chr4:10270865-10270866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74391087	chr4:10270897-10270898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541641354	chr4:10270917-10270918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12505144	chr4:10270919-10270920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576490636	chr4:10270979-10270980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558563943	chr4:10270988-10270989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576797013	chr4:10271001-10271002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543885225	chr4:10271006-10271007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565176073	chr4:10271036-10271037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12508233	chr4:10271037-10271038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201649426	chr4:10271051-10271052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12510726	chr4:10271067-10271068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12510727	chr4:10271070-10271071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530389817	chr4:10271084-10271085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548827548	chr4:10271086-10271087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138017987	chr4:10271090-10271091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530559257	chr4:10271101-10271102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367673282	chr4:10271103-10271104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552244005	chr4:10271112-10271113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570403057	chr4:10271113-10271114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534618354	chr4:10271115-10271116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13134726	chr4:10271119-10271120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12505222	chr4:10271136-10271137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs535344148	chr4:10271144-10271145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556772515	chr4:10271174-10271175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142572339	chr4:10271176-10271177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543600569	chr4:10271182-10271183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184737332	chr4:10271198-10271199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144095374	chr4:10271204-10271205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73097526	chr4:10271209-10271210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559760549	chr4:10271222-10271223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530450379	chr4:10271225-10271226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148696530	chr4:10271231-10271232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561211140	chr4:10271253-10271254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531134886	chr4:10271256-10271257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552451906	chr4:10271267-10271268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78600985	chr4:10271274-10271275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528149794	chr4:10271287-10271288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546218755	chr4:10271296-10271297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567704978	chr4:10271325-10271326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531902991	chr4:10271392-10271393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535401245	chr4:10271407-10271408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370201158	chr4:10271441-10271442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556835617	chr4:10271461-10271462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550090615	chr4:10271462-10271463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539630549	chr4:10271463-10271464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368628348	chr4:10271469-10271470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557639406	chr4:10271479-10271480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559525487	chr4:10271483-10271484	Enhancers Weak transcription	n/a	n/a	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:35 , 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	chr4:10265600-10271000	Weak transcription	K562	blood
3	chr4:10267000-10273600	Weak transcription	Fetal Thymus	thymus
4	chr4:10268800-10273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:10269000-10273800	Weak transcription	HMEC	breast
6	chr4:10269200-10274600	Weak transcription	NHEK	skin
7	chr4:10269400-10274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:10271000-10271800	Enhancers	K562	blood
9	chr4:10271400-10272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:10271800-10277600	Weak transcription	K562	blood
11	chr4:10272200-10274000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:10273400-10274600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:10273600-10274400	Enhancers	Thymus	Thymus
14	chr4:10273600-10275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:10273600-10275200	Enhancers	Fetal Thymus	thymus
16	chr4:10273800-10275000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:10273800-10275200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:10273800-10275400	Enhancers	HMEC	breast
19	chr4:10274000-10274400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:10274000-10274400	Enhancers	HSMM	muscle
21	chr4:10274000-10274600	Enhancers	HSMMtube	muscle
22	chr4:10274000-10274800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:10274000-10275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:10274200-10274800	Enhancers	Osteobl	bone
25	chr4:10274400-10277600	Weak transcription	HSMM	muscle
26	chr4:10274600-10275200	Enhancers	NHEK	skin
27	chr4:10274600-10277200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:10274600-10277200	Weak transcription	HSMMtube	muscle
29	chr4:10274800-10277200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:10275000-10277400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:10275200-10277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:10275200-10279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:10275200-10279600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:10275200-10279800	Weak transcription	NHEK	skin
35	chr4:10275400-10277400	Weak transcription	HMEC	breast

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