Variant report

Variant	esv3466999
Chromosome Location	chr4:10271794-10274490
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..10276718-chr4:10277557..10282432,8	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..10274322-chr4:10278537..10280895,2	K562	blood:

Variant related genes	Relation type
ENSG00000250074	TF binding region

Extended variants
information (count: 183 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557047646	chr4:10271816-10271817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6449419	chr4:10271818-10271819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546165163	chr4:10271835-10271836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570424131	chr4:10271852-10271853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145576004	chr4:10271855-10271856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145387420	chr4:10271857-10271858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540382405	chr4:10271876-10271877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552989749	chr4:10271927-10271928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368991277	chr4:10271949-10271950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56234106	chr4:10271950-10271951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149213448	chr4:10271954-10271955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550578826	chr4:10271991-10271992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562328548	chr4:10271994-10271995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533298222	chr4:10272010-10272011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189260096	chr4:10272012-10272013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73222588	chr4:10272013-10272014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62288092	chr4:10272046-10272047	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs16895675	chr4:10272055-10272056	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79347355	chr4:10272057-10272058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142473988	chr4:10272061-10272062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557363753	chr4:10272090-10272091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10489075	chr4:10272093-10272094	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532489708	chr4:10272099-10272100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370844326	chr4:10272104-10272105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573160212	chr4:10272116-10272117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541076843	chr4:10272134-10272135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540443695	chr4:10272199-10272200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151247921	chr4:10272240-10272241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573435581	chr4:10272244-10272245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543961878	chr4:10272257-10272258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562549626	chr4:10272266-10272267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6833035	chr4:10272269-10272270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544946772	chr4:10272272-10272273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560468751	chr4:10272280-10272281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530241059	chr4:10272297-10272298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550558080	chr4:10272303-10272304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181572708	chr4:10272310-10272311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186503455	chr4:10272326-10272327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567455365	chr4:10272339-10272340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527889378	chr4:10272347-10272348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550795611	chr4:10272375-10272376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191346783	chr4:10272392-10272393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569856173	chr4:10272401-10272402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181187226	chr4:10272418-10272419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6833292	chr4:10272429-10272430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs149746169	chr4:10272460-10272461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570662531	chr4:10272472-10272473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534574472	chr4:10272522-10272523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7691156	chr4:10272537-10272538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190615390	chr4:10272544-10272545	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:24 , 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	chr4:10271000-10271800	Enhancers	K562	blood
8	chr4:10271400-10272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:10271800-10277600	Weak transcription	K562	blood
10	chr4:10272200-10274000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:10273400-10274600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:10273600-10274400	Enhancers	Thymus	Thymus
13	chr4:10273600-10275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:10273600-10275200	Enhancers	Fetal Thymus	thymus
15	chr4:10273800-10275000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:10273800-10275200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:10273800-10275400	Enhancers	HMEC	breast
18	chr4:10274000-10274400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:10274000-10274400	Enhancers	HSMM	muscle
20	chr4:10274000-10274600	Enhancers	HSMMtube	muscle
21	chr4:10274000-10274800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:10274000-10275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:10274200-10274800	Enhancers	Osteobl	bone
24	chr4:10274400-10277600	Weak transcription	HSMM	muscle

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