Variant report

Variant	esv3438852
Chromosome Location	chr4:130142202-130144600
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	chr4:130137037..130139366-chr4:130144529..130147180,2	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546276006	chr4:130142264-130142265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564569589	chr4:130142268-130142269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532009983	chr4:130142278-130142279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376875989	chr4:130142279-130142280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550893146	chr4:130142316-130142317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569068727	chr4:130142317-130142318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536501676	chr4:130142319-130142320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371266411	chr4:130142320-130142321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75668387	chr4:130142323-130142324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566654437	chr4:130142327-130142328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535150009	chr4:130142338-130142339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567635096	chr4:130142347-130142348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185489757	chr4:130142372-130142373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144074529	chr4:130142399-130142400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28741679	chr4:130142454-130142455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550456680	chr4:130142476-130142477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72687163	chr4:130142562-130142563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72687164	chr4:130142566-130142567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542880868	chr4:130142567-130142568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146000500	chr4:130142582-130142583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573082847	chr4:130142594-130142595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139970104	chr4:130142618-130142619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74833534	chr4:130142622-130142623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189807284	chr4:130142640-130142641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556129878	chr4:130142702-130142703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376786922	chr4:130142715-130142716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532191871	chr4:130142720-130142721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78018930	chr4:130142789-130142790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373395153	chr4:130142807-130142808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182795942	chr4:130142809-130142810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564718126	chr4:130142811-130142812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529977151	chr4:130142828-130142829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150518054	chr4:130142840-130142841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368957488	chr4:130142841-130142842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201547937	chr4:130142853-130142854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200058930	chr4:130142855-130142856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143634083	chr4:130142859-130142860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11270589	chr4:130142868-130142869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375595926	chr4:130142876-130142877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371509817	chr4:130142886-130142887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115896470	chr4:130142887-130142888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201978575	chr4:130142900-130142901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569762896	chr4:130142911-130142912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201585017	chr4:130142916-130142917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371514983	chr4:130142917-130142918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373331538	chr4:130142935-130142936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35104849	chr4:130142941-130142942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111375070	chr4:130142955-130142956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34444287	chr4:130142969-130142970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375651336	chr4:130142991-130142992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130140600-130144200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:130144200-130145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr4:130144200-130145600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:130144200-130146400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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