Variant report

Variant	esv3407492
Chromosome Location	chr4:153095545-153096375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:153095102..153097156-chr4:153098765..153101280,3	K562	blood:
2	chr4:153095102..153097789-chr4:153099165..153101280,3	K562	blood:
3	chr4:153092306..153094801-chr4:153095527..153097409,2	K562	blood:

Variant related genes	Relation type
ENSG00000250706	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575391400	chr4:153095588-153095589	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542453144	chr4:153095614-153095615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6858503	chr4:153095684-153095685	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs573029527	chr4:153095703-153095704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540349573	chr4:153095709-153095710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565248958	chr4:153095710-153095711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549794118	chr4:153095715-153095716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138262653	chr4:153095716-153095717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544844063	chr4:153095735-153095736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555506600	chr4:153095747-153095748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113965328	chr4:153095767-153095768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563086885	chr4:153095786-153095787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568109410	chr4:153095796-153095797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530309566	chr4:153095806-153095807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548837809	chr4:153095807-153095808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111361876	chr4:153095824-153095825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528157185	chr4:153095827-153095828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546724098	chr4:153095828-153095829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112915265	chr4:153095832-153095833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548925898	chr4:153095878-153095879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567658450	chr4:153095880-153095881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534868274	chr4:153095884-153095885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569089573	chr4:153095946-153095947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535083293	chr4:153095982-153095983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546761512	chr4:153096056-153096057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113276276	chr4:153096059-153096060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs6810646	chr4:153096079-153096080	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs367646834	chr4:153096096-153096097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554314813	chr4:153096109-153096110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572717451	chr4:153096113-153096114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544243850	chr4:153096127-153096128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370285637	chr4:153096210-153096211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111325101	chr4:153096219-153096220	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368301214	chr4:153096229-153096230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116598751	chr4:153096252-153096253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577166862	chr4:153096304-153096305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544322768	chr4:153096313-153096314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187986156	chr4:153096352-153096353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575241812	chr4:153096355-153096356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153094800-153095600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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