Variant report

Variant	esv3405448
Chromosome Location	chr4:143762902-143765225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143392759..143396343-chr4:143760811..143763844,4	MCF-7	breast:
2	chr4:143762270..143764702-chr4:143766052..143770313,5	MCF-7	breast:
3	chr4:143391120..143394953-chr4:143764140..143771077,8	MCF-7	breast:
4	chr4:143764792..143768376-chr4:144104488..144107848,3	MCF-7	breast:
5	chr4:143381634..143384495-chr4:143762183..143764564,2	MCF-7	breast:
6	chr4:143391004..143397300-chr4:143759915..143764343,9	MCF-7	breast:
7	chr4:143392966..143400087-chr4:143764739..143770446,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250326	chromatin interactions
ENSG00000170185	chromatin interactions
ENSG00000109452	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565699160	chr4:143762934-143762935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28533753	chr4:143762957-143762958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551611167	chr4:143762963-143762964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570162945	chr4:143762965-143762966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566654217	chr4:143763027-143763028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112680927	chr4:143763062-143763063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148499201	chr4:143763063-143763064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537691528	chr4:143763100-143763101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117369783	chr4:143763112-143763113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114463569	chr4:143763120-143763121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574514290	chr4:143763124-143763125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144318658	chr4:143763146-143763147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567527323	chr4:143763162-143763163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568182109	chr4:143763163-143763164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184044536	chr4:143763171-143763172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146100265	chr4:143763244-143763245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571188490	chr4:143763248-143763249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372914200	chr4:143763332-143763333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200480637	chr4:143763336-143763337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1992652	chr4:143763356-143763357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375469717	chr4:143763405-143763406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368341984	chr4:143763476-143763477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571811087	chr4:143763506-143763507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534083027	chr4:143763516-143763517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555553714	chr4:143763563-143763564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115599934	chr4:143763589-143763590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190929759	chr4:143763597-143763598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371996099	chr4:143763604-143763605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201289119	chr4:143763682-143763683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34347258	chr4:143763683-143763684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562886896	chr4:143763738-143763739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111379736	chr4:143763739-143763740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116275454	chr4:143763758-143763759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560340228	chr4:143763773-143763774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527796928	chr4:143763834-143763835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564740535	chr4:143763841-143763842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549166370	chr4:143763923-143763924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561088866	chr4:143763928-143763929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535430294	chr4:143763938-143763939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576256875	chr4:143764224-143764225	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35451077	chr4:143764226-143764227	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182727389	chr4:143764242-143764243	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571217865	chr4:143764245-143764246	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187452600	chr4:143764259-143764260	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540787713	chr4:143764279-143764280	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538209237	chr4:143764321-143764322	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543632522	chr4:143764358-143764359	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547375608	chr4:143764431-143764432	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565399167	chr4:143764466-143764467	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535962572	chr4:143764467-143764468	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Breast cancer	21785460	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
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143740200-143765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143760400-143765800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:143761000-143765400	Enhancers	Dnd41	blood
4	chr4:143761600-143764800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:143761800-143766200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:143762200-143763400	Enhancers	Fetal Heart	heart
7	chr4:143762400-143763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:143762600-143763400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:143763200-143763800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:143763400-143764600	Weak transcription	Fetal Heart	heart
11	chr4:143763400-143765200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:143763800-143764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:143764200-143764400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:143764400-143766800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:143764600-143765600	Active TSS	Fetal Heart	heart
16	chr4:143764800-143765000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:143764800-143765800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr4:143764800-143766200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:143764800-143768800	Active TSS	Stomach Smooth Muscle	stomach
20	chr4:143765000-143765600	Enhancers	A549	lung
21	chr4:143765200-143765600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:143765200-143766600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:143765200-143766800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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