Variant report

Variant	nsv966225
Chromosome Location	chr4:143588151-143592210
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	chr4:143588349..143590393-chr4:143619643..143621785,2	MCF-7	breast:
2	chr4:143392972..143395042-chr4:143588598..143591615,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115440950	chr4:143588226-143588227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183033978	chr4:143588279-143588280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542571943	chr4:143588283-143588284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560725764	chr4:143588297-143588298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531431867	chr4:143588453-143588454	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537669666	chr4:143588496-143588497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549943476	chr4:143588506-143588507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569459713	chr4:143588523-143588524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs150518279	chr4:143588530-143588531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs545337641	chr4:143588554-143588555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552019386	chr4:143588579-143588580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs367806797	chr4:143588655-143588656	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138381765	chr4:143588659-143588660	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567112808	chr4:143588680-143588681	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534225487	chr4:143588690-143588691	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550800773	chr4:143588735-143588736	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7671783	chr4:143588739-143588740	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371324861	chr4:143588790-143588791	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142754317	chr4:143588845-143588846	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs17016550	chr4:143588922-143588923	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187677946	chr4:143588936-143588937	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577738896	chr4:143588956-143588957	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147368680	chr4:143588966-143588967	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553562657	chr4:143588982-143588983	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572258949	chr4:143589033-143589034	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140939266	chr4:143589065-143589066	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192393823	chr4:143589088-143589089	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567815587	chr4:143589125-143589126	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543463231	chr4:143589161-143589162	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564938089	chr4:143589280-143589281	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200032387	chr4:143589301-143589302	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532254455	chr4:143589316-143589317	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551957927	chr4:143589317-143589318	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566998352	chr4:143589333-143589334	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535217694	chr4:143589334-143589335	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527974385	chr4:143589386-143589387	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201367471	chr4:143589442-143589443	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183190307	chr4:143589452-143589453	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549444820	chr4:143589458-143589459	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553439908	chr4:143589502-143589503	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142734982	chr4:143589538-143589539	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567628230	chr4:143589541-143589542	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72726499	chr4:143589585-143589586	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556156469	chr4:143589613-143589614	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144796867	chr4:143589802-143589803	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373943056	chr4:143589844-143589845	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571370029	chr4:143589874-143589875	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs207465142	chr4:143589928-143589929	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553930444	chr4:143589967-143589968	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187876023	chr4:143589971-143589972	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143578600-143600600	Weak transcription	Fetal Heart	heart
2	chr4:143581600-143596600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:143585400-143588400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:143585600-143588200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:143585600-143588200	Weak transcription	Aorta	Aorta
6	chr4:143585600-143588400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:143585600-143613000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:143588000-143588600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:143588200-143588600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr4:143588200-143588600	ZNF genes & repeats	Aorta	Aorta
11	chr4:143588200-143591800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:143588400-143588600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
13	chr4:143588400-143588800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr4:143588600-143594800	Weak transcription	Aorta	Aorta

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