Variant report

Variant	esv1826418
Chromosome Location	chr4:93857570-93890098
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	chr4:93886231..93887821-chr4:93901908..93903959,2	K562	blood:

Extended variants
information (count: 1134 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1134 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150135727	chr4:93864282-93864283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188802938	chr4:93864339-93864340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112645717	chr4:93864340-93864341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555336485	chr4:93864356-93864357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575533536	chr4:93864382-93864383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145578411	chr4:93864386-93864387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564354643	chr4:93864392-93864393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183522744	chr4:93864404-93864405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531580547	chr4:93864456-93864457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540798280	chr4:93864472-93864473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560417661	chr4:93864482-93864483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529380564	chr4:93864498-93864499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549155538	chr4:93864508-93864509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569227064	chr4:93864517-93864518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187472013	chr4:93864534-93864535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557804624	chr4:93864548-93864549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550862080	chr4:93864563-93864564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570684121	chr4:93864568-93864569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539285284	chr4:93864570-93864571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553120893	chr4:93864575-93864576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567084364	chr4:93864580-93864581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191614065	chr4:93864586-93864587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555074407	chr4:93864589-93864590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534404729	chr4:93864628-93864629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574858300	chr4:93864687-93864688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544524721	chr4:93864706-93864707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568376178	chr4:93864715-93864716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184131236	chr4:93864730-93864731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577902222	chr4:93864750-93864751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186641397	chr4:93864752-93864753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200370059	chr4:93864763-93864764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192334413	chr4:93864789-93864790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574053748	chr4:93864825-93864826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543069514	chr4:93864827-93864828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562888485	chr4:93864853-93864854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531711407	chr4:93864855-93864856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551779770	chr4:93864930-93864931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564411695	chr4:93864936-93864937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533250075	chr4:93864977-93864978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546478968	chr4:93864999-93865000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112187644	chr4:93865001-93865002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185529310	chr4:93865026-93865027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371565915	chr4:93865032-93865033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568589536	chr4:93865045-93865046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374796137	chr4:93865047-93865048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145575006	chr4:93865049-93865050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557322326	chr4:93865057-93865058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201463699	chr4:93865068-93865069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534458965	chr4:93865078-93865079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562245392	chr4:93865089-93865090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93864200-93866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:93864400-93874200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:93865400-93865800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:93871200-93883400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:93871400-93883200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:93882200-93882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:93882400-93883000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:93883000-93883600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:93883200-93883600	Enhancers	Fetal Brain Male	brain
11	chr4:93883200-93883800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:93883200-93883800	Enhancers	Fetal Heart	heart
13	chr4:93883400-93883800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:93883600-93884400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:93884400-93890600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:93885800-93886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:93886200-93889800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:93889600-93891000	Enhancers	NHEK	skin
19	chr4:93889800-93890000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:93889800-93891000	Enhancers	HMEC	breast
21	chr4:93889800-93891200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:93889800-93892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:93889800-93892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:93889800-93892400	Enhancers	HSMM	muscle
25	chr4:93889800-93892400	Enhancers	NH-A	brain
26	chr4:93890000-93890600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:93890000-93890600	Enhancers	A549	lung
28	chr4:93890000-93890600	Enhancers	Hela-S3	cervix
29	chr4:93890000-93891000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:93890000-93891800	Enhancers	NHDF-Ad	bronchial

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