Variant report

Variant	esv3508595
Chromosome Location	chr4:150199500-150200450
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	chr4:150179267..150181852-chr4:150198987..150201287,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368118286	chr4:150199594-150199595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569353138	chr4:150199605-150199606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537612733	chr4:150199606-150199607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142610500	chr4:150199628-150199629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150972684	chr4:150199672-150199673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557012481	chr4:150199731-150199732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553689937	chr4:150199797-150199798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573541595	chr4:150199798-150199799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185208443	chr4:150199828-150199829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569022574	chr4:150199890-150199891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77236929	chr4:150199907-150199908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576103094	chr4:150199910-150199911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs518649	chr4:150199924-150199925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs518652	chr4:150199928-150199929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572895511	chr4:150199959-150199960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs479939	chr4:150199986-150199987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371984082	chr4:150199999-150200000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147775339	chr4:150200033-150200034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559017801	chr4:150200056-150200057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376825947	chr4:150200058-150200059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200562843	chr4:150200070-150200071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547389762	chr4:150200073-150200074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577358044	chr4:150200096-150200097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529252868	chr4:150200097-150200098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549372228	chr4:150200158-150200159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569210167	chr4:150200217-150200218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531692602	chr4:150200240-150200241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79076789	chr4:150200305-150200306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113593029	chr4:150200324-150200325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190107065	chr4:150200326-150200327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71876898	chr4:150200334-150200335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34631372	chr4:150200347-150200348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533771472	chr4:150200368-150200369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs484393	chr4:150200415-150200416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553760896	chr4:150200422-150200423	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150198800-150201200	Enhancers	Fetal Brain Male	brain
2	chr4:150199000-150201400	Enhancers	Fetal Muscle Leg	muscle
3	chr4:150200000-150200600	Enhancers	Fetal Muscle Trunk	muscle
4	chr4:150200000-150201000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:150200400-150201400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:150200400-150202000	Enhancers	Fetal Brain Female	brain

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