Variant report

Variant	esv1824463
Chromosome Location	chr4:130129676-130136408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:130129537..130132005-chr4:130135878..130137851,2	K562	blood:
2	chr4:130126327..130128284-chr4:130130664..130133521,2	MCF-7	breast:
3	chr4:130129537..130132005-chr4:130135878..130137851,2	K562	blood:

Extended variants
information (count: 279 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs693243	chr4:130129676-130129677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565488588	chr4:130129733-130129734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202198173	chr4:130129758-130129759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200020958	chr4:130129760-130129761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201102116	chr4:130129762-130129763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577385661	chr4:130129768-130129769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114166688	chr4:130129776-130129777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78582524	chr4:130129787-130129788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568603713	chr4:130129825-130129826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183490845	chr4:130129887-130129888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141601102	chr4:130129896-130129897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566316878	chr4:130129903-130129904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117770047	chr4:130129956-130129957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115248771	chr4:130130039-130130040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376579584	chr4:130130049-130130050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553459747	chr4:130130050-130130051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538038782	chr4:130130067-130130068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557528499	chr4:130130078-130130079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116847495	chr4:130130111-130130112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542706053	chr4:130130154-130130155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377682433	chr4:130130191-130130192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59000235	chr4:130130206-130130207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560314292	chr4:130130238-130130239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561915604	chr4:130130259-130130260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540955550	chr4:130130277-130130278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187996134	chr4:130130296-130130297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193009176	chr4:130130311-130130312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs488685	chr4:130130312-130130313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368824337	chr4:130130334-130130335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529761461	chr4:130130375-130130376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547944311	chr4:130130399-130130400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560130439	chr4:130130413-130130414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527272766	chr4:130130455-130130456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552493697	chr4:130130465-130130466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147349928	chr4:130130478-130130479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567890	chr4:130130482-130130483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs207465054	chr4:130130494-130130495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562069128	chr4:130130519-130130520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139492025	chr4:130130533-130130534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568231155	chr4:130130594-130130595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145109311	chr4:130130598-130130599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571182606	chr4:130130603-130130604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs512552	chr4:130130625-130130626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184718154	chr4:130130651-130130652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533937311	chr4:130130657-130130658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573413971	chr4:130130697-130130698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147581597	chr4:130130704-130130705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577124340	chr4:130130716-130130717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139524433	chr4:130130731-130130732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149709005	chr4:130130742-130130743	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130129600-130134200	Weak transcription	Fetal Heart	heart
2	chr4:130134200-130136000	Enhancers	Fetal Heart	heart
3	chr4:130136000-130139400	Weak transcription	Fetal Heart	heart

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