Variant report

Variant	nsv966370
Chromosome Location	chr4:119559938-119563981
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	CEBPB	chr4:119563765-119563790	HepG2	liver:	n/a	chr4:119563768-119563779 chr4:119563767-119563780

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119200131..119202202-chr4:119563480..119565428,2	K562	blood:

Variant related genes	Relation type
ENSG00000251155	TF binding region
CICP16	TF binding region
ENSG00000269893	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534392166	chr4:119559949-119559950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552837592	chr4:119560020-119560021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530036380	chr4:119560022-119560023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9714463	chr4:119560025-119560026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541441334	chr4:119560063-119560064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554915767	chr4:119560066-119560067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574872386	chr4:119560118-119560119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544217518	chr4:119560130-119560131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564399799	chr4:119560140-119560141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533028146	chr4:119560145-119560146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540377557	chr4:119560151-119560152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560574666	chr4:119560262-119560263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs669049	chr4:119560325-119560326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202210399	chr4:119560369-119560370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71610222	chr4:119560382-119560383	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs549418308	chr4:119560384-119560385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569299043	chr4:119560388-119560389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183745902	chr4:119560392-119560393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551828097	chr4:119560408-119560409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188461742	chr4:119560566-119560567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375122314	chr4:119560569-119560570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571904990	chr4:119560719-119560720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534131078	chr4:119560760-119560761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554309379	chr4:119560784-119560785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62326252	chr4:119560824-119560825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535202027	chr4:119560905-119560906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555029656	chr4:119560996-119560997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574938156	chr4:119561060-119561061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544195296	chr4:119561061-119561062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184577504	chr4:119561095-119561096	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs189896874	chr4:119561107-119561108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181530559	chr4:119561117-119561118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374476278	chr4:119561139-119561140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201980630	chr4:119561158-119561159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560359760	chr4:119561199-119561200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573855590	chr4:119561203-119561204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543175477	chr4:119561208-119561209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562961352	chr4:119561423-119561424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531654218	chr4:119561511-119561512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558774214	chr4:119563488-119563489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368824942	chr4:119563526-119563527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113611096	chr4:119563538-119563539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186216290	chr4:119563761-119563762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56305141	chr4:119563777-119563778	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147418736	chr4:119563780-119563781	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191510567	chr4:119563781-119563782	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs183362530	chr4:119563786-119563787	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187654550	chr4:119563792-119563793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546041675	chr4:119563811-119563812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543629659	chr4:119563818-119563819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119554800-119560400	Weak transcription	Fetal Brain Female	brain
2	chr4:119559000-119561600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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