Variant report

Variant	esv3465622
Chromosome Location	chr4:86704769-86707507
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	chr4:86699451..86703287-chr4:86705841..86708546,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138639	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10516757	chr4:86704797-86704798	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6531870	chr4:86704831-86704832	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565511434	chr4:86704849-86704850	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536220169	chr4:86704853-86704854	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554300132	chr4:86704862-86704863	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570002726	chr4:86704863-86704864	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537393243	chr4:86704864-86704865	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558680086	chr4:86704865-86704866	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577034159	chr4:86704873-86704874	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs79091587	chr4:86704888-86704889	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541134243	chr4:86704909-86704910	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76067859	chr4:86704960-86704961	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574865541	chr4:86704982-86704983	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147457982	chr4:86705021-86705022	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563715151	chr4:86705060-86705061	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531588962	chr4:86705087-86705088	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571996335	chr4:86705109-86705110	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375166451	chr4:86705110-86705111	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182879976	chr4:86705115-86705116	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112779209	chr4:86705123-86705124	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569778612	chr4:86705139-86705140	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535537240	chr4:86705165-86705166	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191118829	chr4:86705211-86705212	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114982985	chr4:86705272-86705273	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74563382	chr4:86705278-86705279	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17395132	chr4:86705279-86705280	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548163399	chr4:86705359-86705360	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565733446	chr4:86705366-86705367	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1452680	chr4:86705423-86705424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145489592	chr4:86705432-86705433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139108824	chr4:86705455-86705456	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs75485378	chr4:86705456-86705457	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs79690830	chr4:86705464-86705465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs367753907	chr4:86705502-86705503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs534416813	chr4:86705572-86705573	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371114538	chr4:86705603-86705604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535198769	chr4:86705655-86705656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs1452681	chr4:86705664-86705665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs114502627	chr4:86705683-86705684	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577864085	chr4:86705794-86705795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557351101	chr4:86705795-86705796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545997837	chr4:86705796-86705797	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs575724105	chr4:86705843-86705844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113725285	chr4:86705906-86705907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565155233	chr4:86705984-86705985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115920104	chr4:86705988-86705989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13127292	chr4:86705999-86706000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559329688	chr4:86706010-86706011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529746355	chr4:86706041-86706042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373313500	chr4:86706059-86706060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
2	chr4:86695400-86708200	Weak transcription	Pancreas	Pancrea
3	chr4:86697200-86707800	Weak transcription	Spleen	Spleen
4	chr4:86698000-86704800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:86700200-86705000	Weak transcription	Liver	Liver
6	chr4:86700600-86706800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:86701000-86704800	Weak transcription	Ovary	ovary
8	chr4:86701000-86705200	Weak transcription	Psoas Muscle	Psoas
9	chr4:86701000-86708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:86701000-86708000	Weak transcription	HMEC	breast
11	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart
12	chr4:86701200-86705000	Weak transcription	Fetal Stomach	stomach
13	chr4:86701200-86708800	Weak transcription	Right Atrium	heart
14	chr4:86701200-86715600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:86701800-86708800	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:86702200-86705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:86702200-86705600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:86702200-86709800	Weak transcription	Fetal Kidney	kidney
19	chr4:86702200-86711200	Weak transcription	Fetal Lung	lung
20	chr4:86702400-86704800	Weak transcription	Adipose Nuclei	Adipose
21	chr4:86702400-86704800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:86702400-86704800	Weak transcription	HSMMtube	muscle
23	chr4:86702400-86707000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:86702800-86705000	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:86703000-86705000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:86703000-86705200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:86703000-86705400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:86703200-86705000	Weak transcription	Left Ventricle	heart
29	chr4:86703600-86706000	Enhancers	Rectal Smooth Muscle	rectum
30	chr4:86703800-86705000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:86703800-86705800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr4:86704000-86715600	Enhancers	Osteobl	bone
33	chr4:86704000-86719800	Enhancers	NHDF-Ad	bronchial
34	chr4:86704200-86705000	Enhancers	Primary B cells from cord blood	blood
35	chr4:86704200-86705800	Flanking Active TSS	HUVEC	blood vessel
36	chr4:86704200-86706400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:86704200-86706400	Enhancers	HSMM	muscle
38	chr4:86704400-86704800	Weak transcription	NH-A	brain
39	chr4:86704400-86705600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:86704400-86709800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:86704400-86710000	Enhancers	NHLF	lung
42	chr4:86704600-86705000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:86704600-86705200	Active TSS	Aorta	Aorta
44	chr4:86704600-86705600	Enhancers	A549	lung
45	chr4:86704600-86706400	Enhancers	Primary B cells from peripheral blood	blood
46	chr4:86704800-86705000	Enhancers	Stomach Smooth Muscle	stomach
47	chr4:86704800-86705200	Enhancers	NHEK	skin
48	chr4:86704800-86705600	Enhancers	NH-A	brain
49	chr4:86704800-86705800	Enhancers	Adipose Nuclei	Adipose
50	chr4:86704800-86705800	Enhancers	Sigmoid Colon	Sigmoid Colon

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