Variant report

Variant	esv3416431
Chromosome Location	chr4:100327443-100327973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2099855	chr4:100327472-100327473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572679498	chr4:100327479-100327480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546375456	chr4:100327489-100327490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558211600	chr4:100327500-100327501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181174104	chr4:100327523-100327524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141979233	chr4:100327524-100327525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150272573	chr4:100327550-100327551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553434848	chr4:100327557-100327558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138878215	chr4:100327599-100327600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115067981	chr4:100327652-100327653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184657178	chr4:100327659-100327660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs994772	chr4:100327664-100327665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542065399	chr4:100327683-100327684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563838643	chr4:100327696-100327697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149408624	chr4:100327742-100327743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147519608	chr4:100327793-100327794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs994771	chr4:100327803-100327804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs115142034	chr4:100327808-100327809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556261267	chr4:100327812-100327813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139955692	chr4:100327824-100327825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574620016	chr4:100327838-100327839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10020840	chr4:100327887-100327888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100324600-100332400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:100325400-100328800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:100326000-100334200	Weak transcription	Aorta	Aorta
4	chr4:100326200-100331400	Weak transcription	Esophagus	oesophagus
5	chr4:100326800-100328800	Weak transcription	Adipose Nuclei	Adipose
6	chr4:100326800-100329000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:100326800-100329200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:100326800-100330800	Enhancers	Liver	Liver
9	chr4:100326800-100331400	Weak transcription	Pancreas	Pancrea
10	chr4:100326800-100331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:100326800-100332000	Weak transcription	HMEC	breast
12	chr4:100327000-100328800	Weak transcription	Stomach Mucosa	stomach
13	chr4:100327000-100329200	Weak transcription	Fetal Lung	lung
14	chr4:100327200-100328600	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:100327200-100331200	Weak transcription	Ovary	ovary

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