Variant report

Variant	nsv293285
Chromosome Location	chr4:165945134-165949254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:165948914-165949170	K562	blood:	n/a	n/a
2	JUND	chr4:165948855-165949160	K562	blood:	n/a	n/a
3	POLR2A	chr4:165945582-165945690	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr4:165948511-165948578	MCF-7	breast:	n/a	n/a
5	RCOR1	chr4:165948928-165949128	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250430	TF binding region
TRIM60	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180815724	chr4:165946621-165946622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571452699	chr4:165946626-165946627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553700950	chr4:165946631-165946632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187418657	chr4:165946644-165946645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190665091	chr4:165946659-165946660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566338637	chr4:165946665-165946666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143628091	chr4:165946678-165946679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555107385	chr4:165946681-165946682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375809306	chr4:165946759-165946760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181921212	chr4:165946775-165946776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13112943	chr4:165946799-165946800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186169692	chr4:165946810-165946811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190492560	chr4:165946858-165946859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558443014	chr4:165946859-165946860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115546483	chr4:165946902-165946903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572269435	chr4:165946930-165946931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542566746	chr4:165946947-165946948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561089228	chr4:165946967-165946968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562082527	chr4:165947001-165947002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549603778	chr4:165947003-165947004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142366469	chr4:165947060-165947061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532495452	chr4:165947079-165947080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547738708	chr4:165947119-165947120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565952336	chr4:165947225-165947226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369976280	chr4:165947254-165947255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530374075	chr4:165947265-165947266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145931295	chr4:165947281-165947282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375752341	chr4:165947299-165947300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570404265	chr4:165947303-165947304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537627121	chr4:165947313-165947314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559223153	chr4:165947360-165947361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75863326	chr4:165947397-165947398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138517010	chr4:165947419-165947420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113307664	chr4:165947426-165947427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182797689	chr4:165947432-165947433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544279077	chr4:165947486-165947487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2056252	chr4:165947490-165947491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs571948484	chr4:165947510-165947511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372983688	chr4:165947525-165947526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542652542	chr4:165947550-165947551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111845781	chr4:165947554-165947555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376093058	chr4:165947584-165947585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556655121	chr4:165947601-165947602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185617904	chr4:165947618-165947619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114847033	chr4:165947726-165947727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543189247	chr4:165947779-165947780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564757466	chr4:165947784-165947785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532433111	chr4:165947785-165947786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532170569	chr4:165947813-165947814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541172869	chr4:165947819-165947820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165946600-165947600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:165947600-165947800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:165947800-165948000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:165947800-165948200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:165947800-165953200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:165948200-165949200	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:165948800-165949600	Enhancers	Brain Hippocampus Middle	brain
8	chr4:165949000-165949400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:165949000-165949600	Enhancers	Brain Inferior Temporal Lobe	brain

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