Variant report

Variant	esv3331854
Chromosome Location	chr4:90858429-90860777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90860176..90863867-chr4:90870458..90873273,3	MCF-7	breast:
2	chr4:90856349..90858314-chr4:90859079..90860878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138722	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149313742	chr4:90858441-90858442	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184416263	chr4:90858449-90858450	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574358373	chr4:90858533-90858534	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116537589	chr4:90858539-90858540	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563700131	chr4:90858546-90858547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561626364	chr4:90858572-90858573	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113287216	chr4:90858645-90858646	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529590388	chr4:90858718-90858719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145203842	chr4:90858745-90858746	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187218807	chr4:90858786-90858787	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114583229	chr4:90858849-90858850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192530457	chr4:90858869-90858870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529114499	chr4:90858882-90858883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548866181	chr4:90858891-90858892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80059770	chr4:90859017-90859018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538227124	chr4:90859052-90859053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557898906	chr4:90859097-90859098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571691515	chr4:90859106-90859107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140996603	chr4:90859114-90859115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554373017	chr4:90859135-90859136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574293053	chr4:90859165-90859166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543291882	chr4:90859194-90859195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75105723	chr4:90859212-90859213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374847547	chr4:90859242-90859243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79214011	chr4:90859279-90859280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529696202	chr4:90859286-90859287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544174994	chr4:90859287-90859288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185712261	chr4:90859320-90859321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577635169	chr4:90859337-90859338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547924589	chr4:90859379-90859380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569620952	chr4:90859434-90859435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559871846	chr4:90859505-90859506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529048529	chr4:90859535-90859536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548246382	chr4:90859628-90859629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13121387	chr4:90859654-90859655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77455864	chr4:90859663-90859664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369320280	chr4:90859668-90859669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370447861	chr4:90859669-90859670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs70963047	chr4:90859678-90859679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67212195	chr4:90859711-90859712	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375313422	chr4:90859820-90859821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562425411	chr4:90859830-90859831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558596626	chr4:90859872-90859873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531534441	chr4:90859896-90859897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570333475	chr4:90859898-90859899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368433406	chr4:90860034-90860035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534258915	chr4:90860053-90860054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534471987	chr4:90860054-90860055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567802525	chr4:90860063-90860064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113492182	chr4:90860086-90860087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90854000-90867000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:90855000-90872400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:90856000-90861400	Strong transcription	HUVEC	blood vessel
4	chr4:90856400-90867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:90856800-90878200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:90858400-90858800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:90858800-90859200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:90859200-90872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:90860200-90860600	Enhancers	Fetal Lung	lung
10	chr4:90860200-90860800	Enhancers	Fetal Brain Male	brain
11	chr4:90860200-90861200	Enhancers	Fetal Brain Female	brain
12	chr4:90860600-90861200	Flanking Active TSS	Fetal Lung	lung
13	chr4:90860600-90861800	Enhancers	Brain Germinal Matrix	brain

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