Variant report

Variant	esv2424456
Chromosome Location	chr4:79671998-79673585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79670306..79672761-chr4:79674776..79676315,2	K562	blood:
2	chr4:79671491..79675172-chr4:79695694..79700236,6	K562	blood:
3	chr4:79671149..79677345-chr4:79694159..79700053,8	K562	blood:
4	chr4:79541751..79544197-chr4:79672798..79674957,2	K562	blood:
5	chr4:79658501..79661500-chr4:79673570..79675730,2	K562	blood:

Variant related genes	Relation type
ENSG00000260278	chromatin interactions
ENSG00000138756	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535967243	chr4:79672046-79672047	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143394409	chr4:79672047-79672048	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189265300	chr4:79672064-79672065	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10440397	chr4:79672080-79672081	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548904902	chr4:79672084-79672085	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560463657	chr4:79672085-79672086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181153137	chr4:79672089-79672090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545635104	chr4:79672157-79672158	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140985032	chr4:79672166-79672167	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531276985	chr4:79672243-79672244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541896455	chr4:79672302-79672303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568815530	chr4:79672305-79672306	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186497432	chr4:79672327-79672328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527284623	chr4:79672332-79672333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs377394538	chr4:79672382-79672383	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370736135	chr4:79672400-79672401	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191750157	chr4:79672414-79672415	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144831983	chr4:79672449-79672450	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181880293	chr4:79672495-79672496	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144760949	chr4:79672515-79672516	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555894051	chr4:79672530-79672531	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4432766	chr4:79672539-79672540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs17003446	chr4:79672589-79672590	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558188700	chr4:79672609-79672610	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530129054	chr4:79672652-79672653	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546097737	chr4:79672747-79672748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs148558919	chr4:79672761-79672762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs186128255	chr4:79672826-79672827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142891533	chr4:79672831-79672832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561436225	chr4:79672847-79672848	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs151057758	chr4:79672892-79672893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141242384	chr4:79672895-79672896	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370309209	chr4:79672909-79672910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575784310	chr4:79672934-79672935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs564802602	chr4:79672967-79672968	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539541660	chr4:79673088-79673089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555851599	chr4:79673128-79673129	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143552669	chr4:79673154-79673155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533424140	chr4:79673156-79673157	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs548313666	chr4:79673187-79673188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs550433378	chr4:79673224-79673225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs57707267	chr4:79673253-79673254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529481267	chr4:79673260-79673261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs549609105	chr4:79673294-79673295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190843467	chr4:79673302-79673303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs146519965	chr4:79673314-79673315	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs541711436	chr4:79673381-79673382	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs535145821	chr4:79673392-79673393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs78349008	chr4:79673393-79673394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370864585	chr4:79673433-79673434	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79669400-79675400	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:79669800-79672600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:79670200-79675400	Enhancers	Primary B cells from cord blood	blood
4	chr4:79670400-79672200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:79670600-79672000	Flanking Active TSS	GM12878-XiMat	blood
6	chr4:79670600-79672000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr4:79670600-79672200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:79670600-79672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:79670600-79672400	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:79670800-79672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:79671200-79673400	Enhancers	Fetal Intestine Small	intestine
12	chr4:79671400-79672000	Enhancers	Duodenum Mucosa	Duodenum
13	chr4:79671600-79672000	Enhancers	HepG2	liver
14	chr4:79671600-79672400	Enhancers	Small Intestine	intestine
15	chr4:79671600-79673800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:79671600-79674600	Enhancers	NHDF-Ad	bronchial
17	chr4:79671800-79672000	Enhancers	Fetal Heart	heart
18	chr4:79671800-79672200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:79671800-79672800	Enhancers	Fetal Intestine Large	intestine
20	chr4:79671800-79673200	Enhancers	Liver	Liver
21	chr4:79671800-79673600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:79671800-79682600	Weak transcription	K562	blood
23	chr4:79672000-79672400	Enhancers	GM12878-XiMat	blood
24	chr4:79672000-79672800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:79672200-79672600	Enhancers	HepG2	liver
26	chr4:79672400-79672600	Flanking Active TSS	GM12878-XiMat	blood
27	chr4:79672600-79674400	Enhancers	GM12878-XiMat	blood
28	chr4:79672800-79673000	Weak transcription	Fetal Intestine Large	intestine
29	chr4:79672800-79677800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:79673400-79674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:79673400-79678800	Weak transcription	Fetal Intestine Small	intestine

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