Variant report

Variant	esv3386979
Chromosome Location	chr4:152802239-152804368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:152804253..152807006-chr4:152811957..152814569,2	K562	blood:
2	chr4:152803724..152805338-chr4:152808624..152810923,2	K562	blood:
3	chr4:152803737..152805745-chr4:152816897..152818541,2	MCF-7	breast:
4	chr4:152804097..152806378-chr4:152817285..152819187,2	K562	blood:

Variant related genes	Relation type
ENSG00000249708	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115124186	chr4:152802323-152802324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559714715	chr4:152802353-152802354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554310957	chr4:152802356-152802357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146949078	chr4:152802367-152802368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs495161	chr4:152802382-152802383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13127761	chr4:152802384-152802385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs484326	chr4:152802386-152802387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565172704	chr4:152802414-152802415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540620121	chr4:152802421-152802422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs484497	chr4:152802443-152802444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181649253	chr4:152802444-152802445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544229873	chr4:152802485-152802486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563021116	chr4:152802505-152802506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558925883	chr4:152802506-152802507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147591606	chr4:152802539-152802540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs361161	chr4:152802623-152802624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560646121	chr4:152802628-152802629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551076273	chr4:152802634-152802635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528040616	chr4:152802701-152802702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552826826	chr4:152802747-152802748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142123121	chr4:152802770-152802771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71618385	chr4:152802774-152802775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530710246	chr4:152802809-152802810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550282035	chr4:152802824-152802825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548941306	chr4:152802830-152802831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115967521	chr4:152802881-152802882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535928738	chr4:152802921-152802922	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554372332	chr4:152802977-152802978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572690734	chr4:152803006-152803007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533698339	chr4:152803036-152803037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184758939	chr4:152803041-152803042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577032101	chr4:152803089-152803090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544609527	chr4:152803092-152803093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114760061	chr4:152803136-152803137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189471335	chr4:152803167-152803168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs900902	chr4:152803182-152803183	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146027812	chr4:152803205-152803206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566091407	chr4:152803257-152803258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527898261	chr4:152803269-152803270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552449582	chr4:152803337-152803338	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564824408	chr4:152803352-152803353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs578131148	chr4:152803374-152803375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs72732138	chr4:152803397-152803398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs138634167	chr4:152803435-152803436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111763590	chr4:152803444-152803445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs377079258	chr4:152803453-152803454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115678507	chr4:152803463-152803464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534010819	chr4:152803489-152803490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76537071	chr4:152803546-152803547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181527354	chr4:152803626-152803627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152796400-152808200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:152796600-152806800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:152796600-152807200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:152799800-152803000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:152801600-152802800	Enhancers	GM12878-XiMat	blood
6	chr4:152801800-152806600	Weak transcription	Fetal Brain Male	brain
7	chr4:152801800-152806800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:152801800-152807000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:152802000-152802400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:152802200-152807000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:152802400-152806000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:152802600-152803200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr4:152802600-152804200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:152802800-152803400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:152802800-152804200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:152802800-152804200	Flanking Active TSS	GM12878-XiMat	blood
17	chr4:152803000-152803400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:152803000-152803400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:152803000-152804000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr4:152803000-152804000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:152803000-152805600	Enhancers	Fetal Thymus	thymus
22	chr4:152803200-152804000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:152803400-152803600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:152803400-152803800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:152803400-152804000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr4:152803400-152809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:152803600-152804000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:152804000-152804400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:152804000-152808800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:152804000-152809000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:152804200-152806000	Enhancers	GM12878-XiMat	blood
32	chr4:152804200-152809400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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