Variant report

Variant	esv3376435
Chromosome Location	chr4:7523477-7526025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7524845..7525381-chr4:7721481..7722229,2	K562	blood:
2	chr4:7516846..7519696-chr4:7521879..7524111,2	K562	blood:
3	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:

Extended variants
information (count: 151 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs574978671	chr4:7523477-7523478	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs542016118	chr4:7523491-7523492	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs744358	chr4:7523509-7523510	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145604047	chr4:7523533-7523534	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs115111394	chr4:7523540-7523541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs370269668	chr4:7523544-7523545	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs538689904	chr4:7523557-7523558	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs12504487	chr4:7523573-7523574	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs367904908	chr4:7523626-7523627	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571856887	chr4:7523654-7523655	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542208080	chr4:7523673-7523674	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554179851	chr4:7523682-7523683	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372175045	chr4:7523702-7523703	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369892146	chr4:7523711-7523712	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35188011	chr4:7523745-7523746	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543366349	chr4:7523746-7523747	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565050342	chr4:7523789-7523790	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148033661	chr4:7523820-7523821	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs141737828	chr4:7523821-7523822	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs559874890	chr4:7523832-7523833	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs530249848	chr4:7523846-7523847	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs111296468	chr4:7523859-7523860	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs77946862	chr4:7523881-7523882	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs75565140	chr4:7523890-7523891	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs531202570	chr4:7523904-7523905	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs61096498	chr4:7523906-7523907	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570981077	chr4:7523922-7523923	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs368379576	chr4:7523923-7523924	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs534886027	chr4:7523966-7523967	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs553192634	chr4:7523994-7523995	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs565423760	chr4:7524043-7524044	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs535962773	chr4:7524085-7524086	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs73214614	chr4:7524089-7524090	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150840873	chr4:7524101-7524102	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs542600617	chr4:7524104-7524105	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs78461790	chr4:7524135-7524136	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs11931772	chr4:7524138-7524139	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138229297	chr4:7524139-7524140	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs559613928	chr4:7524164-7524165	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs542508476	chr4:7524206-7524207	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576130747	chr4:7524240-7524241	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180961687	chr4:7524268-7524269	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542360654	chr4:7524290-7524291	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28577242	chr4:7524298-7524299	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10017620	chr4:7524310-7524311	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9995830	chr4:7524315-7524316	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565353292	chr4:7524329-7524330	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532723589	chr4:7524388-7524389	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528794957	chr4:7524423-7524424	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201191892	chr4:7524442-7524443	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
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
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
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7518800-7523600	Weak transcription	Right Atrium	heart
2	chr4:7520000-7524400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:7520200-7525400	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr4:7520400-7524600	Enhancers	Fetal Brain Male	brain
5	chr4:7521000-7527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:7522000-7523600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:7522800-7523800	Weak transcription	Brain Germinal Matrix	brain
8	chr4:7523600-7523800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:7523600-7524000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr4:7523600-7524800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:7523800-7525800	Enhancers	Brain Germinal Matrix	brain
12	chr4:7524000-7525200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:7524200-7524800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:7524200-7525000	Bivalent Enhancer	Fetal Brain Female	brain
15	chr4:7524400-7524800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
16	chr4:7524600-7525200	Bivalent Enhancer	Fetal Brain Male	brain
17	chr4:7524800-7525000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:7524800-7525000	Bivalent Enhancer	Fetal Stomach	stomach
19	chr4:7524800-7527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:7525000-7526200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:7525000-7526800	Bivalent Enhancer	HepG2	liver
22	chr4:7525200-7526800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr4:7525200-7527000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr4:7525600-7526000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:7525600-7526600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr4:7525600-7526800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:7525600-7527200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:7525800-7526000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:7525800-7526000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr4:7525800-7527200	Weak transcription	Brain Germinal Matrix	brain
31	chr4:7525800-7527400	Enhancers	Ovary	ovary
32	chr4:7525800-7529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:7526000-7526200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:7526000-7526200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:7526000-7526200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:7526000-7526200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:7526000-7526200	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr4:7526000-7526200	Bivalent Enhancer	Fetal Lung	lung
39	chr4:7526000-7526400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr4:7526000-7526600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr4:7526000-7526600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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