Variant report

Variant	esv3466115
Chromosome Location	chr4:120865523-120866606
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	chr4:120860025..120863004-chr4:120864528..120867684,3	K562	blood:

Variant related genes	Relation type
ENSG00000250392	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549978758	chr4:120865530-120865531	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569952288	chr4:120865531-120865532	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138684088	chr4:120865542-120865543	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs13150506	chr4:120865574-120865575	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566021351	chr4:120865584-120865585	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534708045	chr4:120865586-120865587	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554080595	chr4:120865601-120865602	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567581482	chr4:120865612-120865613	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34030801	chr4:120865673-120865674	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536583564	chr4:120865810-120865811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556371589	chr4:120865814-120865815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181006718	chr4:120865860-120865861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538718768	chr4:120865889-120865890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558379215	chr4:120865924-120865925	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571962028	chr4:120865926-120865927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540695503	chr4:120865944-120865945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185888575	chr4:120866023-120866024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574511593	chr4:120866033-120866034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372218886	chr4:120866064-120866065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563529566	chr4:120866110-120866111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112964946	chr4:120866138-120866139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552592039	chr4:120866171-120866172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559611863	chr4:120866177-120866178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113962230	chr4:120866182-120866183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548585160	chr4:120866238-120866239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73842774	chr4:120866257-120866258	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11934892	chr4:120866284-120866285	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11939602	chr4:120866450-120866451	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12502424	chr4:120866456-120866457	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565095093	chr4:120866469-120866470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190400979	chr4:120866549-120866550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531006654	chr4:120866567-120866568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs137980318	chr4:120866573-120866574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201005001	chr4:120866579-120866580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201880565	chr4:120866592-120866593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12502497	chr4:120866594-120866595	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567406860	chr4:120866597-120866598	Inactive region	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
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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120865400-120865800	Enhancers	HepG2	liver

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