Variant report

Variant	esv5922
Chromosome Location	chr4:131694728-131695207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374567192	chr4:131694761-131694762	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs561233115	chr4:131694763-131694764	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs377469607	chr4:131694838-131694839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201424449	chr4:131694839-131694840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199550976	chr4:131694840-131694841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547059021	chr4:131694848-131694849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571613681	chr4:131694855-131694856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113064499	chr4:131694865-131694866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200680145	chr4:131694876-131694877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180984284	chr4:131694907-131694908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184896497	chr4:131694909-131694910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532334720	chr4:131694920-131694921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543878625	chr4:131694930-131694931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190144771	chr4:131694944-131694945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181166646	chr4:131695020-131695021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201513023	chr4:131695021-131695022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200081367	chr4:131695023-131695024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200697495	chr4:131695029-131695030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535037744	chr4:131695058-131695059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70944271	chr4:131695059-131695060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111278131	chr4:131695074-131695075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397995401	chr4:131695076-131695077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12505519	chr4:131695089-131695090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566268164	chr4:131695172-131695173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555937081	chr4:131695176-131695177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3103397	chr4:131695202-131695203	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
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
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
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131689800-131697400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:131690000-131698400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:131693200-131695600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:131694400-131694800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:131694400-131694800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:131694400-131694800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
7	chr4:131694400-131694800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:131694400-131695400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:131694400-131695400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:131694400-131695800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:131694800-131695600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:131694800-131695600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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