Variant report

Variant	esv1829573
Chromosome Location	chr4:130131359-130137778
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	chr4:130129537..130132005-chr4:130135878..130137851,2	K562	blood:
3	chr4:130137037..130139366-chr4:130144529..130147180,2	K562	blood:
4	chr4:130126327..130128284-chr4:130130664..130133521,2	MCF-7	breast:

Extended variants
information (count: 255 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:255 , 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	rs28645470	chr4:130131359-130131360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545884819	chr4:130131363-130131364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200542259	chr4:130131364-130131365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146779789	chr4:130131367-130131368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185895611	chr4:130131371-130131372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140479166	chr4:130131400-130131401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529127151	chr4:130131414-130131415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145645659	chr4:130131458-130131459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565839632	chr4:130131482-130131483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200410412	chr4:130131502-130131503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142528356	chr4:130131504-130131505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3070951	chr4:130131505-130131506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372830855	chr4:130131618-130131619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5861884	chr4:130131707-130131708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376199312	chr4:130131714-130131715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374703578	chr4:130131715-130131716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201156744	chr4:130131716-130131717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368129751	chr4:130131719-130131720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552239074	chr4:130131720-130131721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190764349	chr4:130131724-130131725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527456726	chr4:130131730-130131731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556482908	chr4:130131760-130131761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200362633	chr4:130131922-130131923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397733838	chr4:130131923-130131924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371401458	chr4:130131925-130131926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568672340	chr4:130131981-130131982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148102287	chr4:130131994-130131995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562179316	chr4:130131999-130132000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530506843	chr4:130132028-130132029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115810713	chr4:130132029-130132030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34723502	chr4:130132092-130132093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572563337	chr4:130132106-130132107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532099	chr4:130132115-130132116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181568588	chr4:130132119-130132120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375951296	chr4:130132162-130132163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186289222	chr4:130132174-130132175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141892988	chr4:130132179-130132180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1847441	chr4:130132191-130132192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs13104702	chr4:130132262-130132263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13104286	chr4:130132289-130132290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533664088	chr4:130132324-130132325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559319740	chr4:130132331-130132332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532941226	chr4:130132411-130132412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577490922	chr4:130132417-130132418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552302379	chr4:130132459-130132460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372197863	chr4:130132475-130132476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570605030	chr4:130132477-130132478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150244137	chr4:130132495-130132496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190588870	chr4:130132561-130132562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182765593	chr4:130132621-130132622	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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