Variant report

Variant	esv3378753
Chromosome Location	chr4:142886396-142940399
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	chr4:142881011..142883587-chr4:142896903..142898458,2	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201996967	chr4:142886444-142886445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116836072	chr4:142886485-142886486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6849970	chr4:142886512-142886513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs180820183	chr4:142886538-142886539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79860924	chr4:142886553-142886554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559529168	chr4:142886565-142886566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529705943	chr4:142886594-142886595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115952904	chr4:142886626-142886627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569535956	chr4:142886631-142886632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564662174	chr4:142886677-142886678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144565508	chr4:142886698-142886699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1500832	chr4:142886724-142886725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs62327922	chr4:142886749-142886750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368107487	chr4:142886823-142886824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4626288	chr4:142886866-142886867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138597729	chr4:142886903-142886904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568285948	chr4:142886907-142886908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186280919	chr4:142886914-142886915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555078611	chr4:142886936-142886937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576346282	chr4:142886938-142886939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543845158	chr4:142886956-142886957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141683129	chr4:142886957-142886958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548063649	chr4:142886970-142886971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566685959	chr4:142886980-142886981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551041412	chr4:142886992-142886993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559500454	chr4:142886994-142886995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566365589	chr4:142887005-142887006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527487768	chr4:142887006-142887007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533767283	chr4:142887028-142887029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12507289	chr4:142887029-142887030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190713402	chr4:142887032-142887033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114601051	chr4:142887033-142887034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530527253	chr4:142887092-142887093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552113058	chr4:142887124-142887125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564088800	chr4:142887128-142887129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528368501	chr4:142887136-142887137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546942271	chr4:142887139-142887140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568243353	chr4:142887160-142887161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535684489	chr4:142887197-142887198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548386414	chr4:142887211-142887212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150744709	chr4:142887223-142887224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537158069	chr4:142887230-142887231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183277321	chr4:142887256-142887257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554527445	chr4:142887257-142887258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185742560	chr4:142887272-142887273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372749522	chr4:142887275-142887276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190596355	chr4:142887285-142887286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2221212	chr4:142887290-142887291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183786704	chr4:142887291-142887292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114677671	chr4:142887325-142887326	Enhancers	n/a	n/a	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142886200-142887200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:142887000-142887400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:142887200-142887600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:142894000-142894400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:142898200-142899000	Enhancers	HSMMtube	muscle
6	chr4:142919200-142919600	ZNF genes & repeats	Osteobl	bone
7	chr4:142920000-142921000	Enhancers	K562	blood
8	chr4:142920600-142921200	Enhancers	Fetal Heart	heart
9	chr4:142921000-142922000	Weak transcription	K562	blood
10	chr4:142922000-142922200	Enhancers	K562	blood
11	chr4:142934800-142935600	Enhancers	HUVEC	blood vessel

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