Variant report

Variant	esv1823969
Chromosome Location	chr4:93869564-93905087
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:
2	chr4:93886231..93887821-chr4:93901908..93903959,2	K562	blood:

Extended variants
information (count: 1064 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1064 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17261940	chr4:93869564-93869565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564442548	chr4:93869609-93869610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139198028	chr4:93869634-93869635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184434127	chr4:93869669-93869670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559874080	chr4:93869670-93869671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72616102	chr4:93869707-93869708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114729267	chr4:93869736-93869737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548640572	chr4:93869757-93869758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568589652	chr4:93869758-93869759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531372401	chr4:93869810-93869811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17020026	chr4:93869815-93869816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143211308	chr4:93869840-93869841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534181608	chr4:93869855-93869856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554418152	chr4:93869897-93869898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188727733	chr4:93869899-93869900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372526448	chr4:93869902-93869903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147521410	chr4:93869919-93869920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192564686	chr4:93869940-93869941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576447802	chr4:93869946-93869947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76787723	chr4:93869970-93869971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375211613	chr4:93870000-93870001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202223997	chr4:93870024-93870025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184899804	chr4:93870031-93870032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540120924	chr4:93870049-93870050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539369157	chr4:93870066-93870067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554479323	chr4:93870078-93870079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189160623	chr4:93870110-93870111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572616938	chr4:93870149-93870150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180999434	chr4:93870175-93870176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562283555	chr4:93870177-93870178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184644704	chr4:93870206-93870207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551362059	chr4:93870233-93870234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564687555	chr4:93870269-93870270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542816117	chr4:93870273-93870274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578098614	chr4:93870283-93870284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112763953	chr4:93870284-93870285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555446695	chr4:93870287-93870288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199991603	chr4:93870307-93870308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374366766	chr4:93870317-93870318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559971760	chr4:93870318-93870319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138532367	chr4:93870319-93870320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563833216	chr4:93870329-93870330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567940787	chr4:93870333-93870334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142022202	chr4:93870336-93870337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573703826	chr4:93870347-93870348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375409202	chr4:93870357-93870358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550391520	chr4:93870361-93870362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570136272	chr4:93870425-93870426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538715958	chr4:93870458-93870459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543892438	chr4:93870525-93870526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93864400-93874200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:93871200-93883400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:93871400-93883200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:93882200-93882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:93882400-93883000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:93883000-93883600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:93883200-93883600	Enhancers	Fetal Brain Male	brain
9	chr4:93883200-93883800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:93883200-93883800	Enhancers	Fetal Heart	heart
11	chr4:93883400-93883800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:93883600-93884400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:93884400-93890600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:93885800-93886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:93886200-93889800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:93889600-93891000	Enhancers	NHEK	skin
17	chr4:93889800-93890000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:93889800-93891000	Enhancers	HMEC	breast
19	chr4:93889800-93891200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:93889800-93892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:93889800-93892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:93889800-93892400	Enhancers	HSMM	muscle
23	chr4:93889800-93892400	Enhancers	NH-A	brain
24	chr4:93890000-93890600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:93890000-93890600	Enhancers	A549	lung
26	chr4:93890000-93890600	Enhancers	Hela-S3	cervix
27	chr4:93890000-93891000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:93890000-93891800	Enhancers	NHDF-Ad	bronchial
29	chr4:93890400-93890600	Enhancers	Liver	Liver
30	chr4:93890400-93891400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:93890400-93892000	Enhancers	HepG2	liver
32	chr4:93890600-93891000	Flanking Active TSS	Liver	Liver
33	chr4:93890600-93891000	Flanking Active TSS	A549	lung
34	chr4:93890600-93891400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:93890600-93891600	Weak transcription	Hela-S3	cervix
36	chr4:93890600-93891800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:93890600-93892000	Enhancers	HUVEC	blood vessel
38	chr4:93890600-93892400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:93891000-93891400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:93891000-93891400	Active TSS	A549	lung
41	chr4:93891000-93892000	Enhancers	Liver	Liver
42	chr4:93891200-93891400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:93891400-93892400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:93891400-93892400	Enhancers	A549	lung
45	chr4:93891600-93892000	Enhancers	Hela-S3	cervix
46	chr4:93900800-93901000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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