Variant report

Variant	esv3385793
Chromosome Location	chr4:97965729-97969127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536495015	chr4:97965746-97965747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536397101	chr4:97965754-97965755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569300304	chr4:97965765-97965766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554635938	chr4:97965879-97965880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573113065	chr4:97965906-97965907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534082857	chr4:97965913-97965914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189059073	chr4:97965989-97965990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559009774	chr4:97965994-97965995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577433792	chr4:97965996-97965997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151127736	chr4:97966014-97966015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563324927	chr4:97966022-97966023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575301551	chr4:97966152-97966153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542751688	chr4:97966157-97966158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10010641	chr4:97966171-97966172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528317085	chr4:97966182-97966183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544643813	chr4:97966185-97966186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192718714	chr4:97966198-97966199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546736826	chr4:97966208-97966209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183764664	chr4:97966302-97966303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532462598	chr4:97966310-97966311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188535022	chr4:97966374-97966375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558694353	chr4:97966375-97966376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536207897	chr4:97966402-97966403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72874654	chr4:97966415-97966416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78448853	chr4:97966420-97966421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142636649	chr4:97966464-97966465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144626377	chr4:97966527-97966528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541114301	chr4:97966528-97966529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147867217	chr4:97966530-97966531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28520218	chr4:97966557-97966558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111432610	chr4:97966584-97966585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141668976	chr4:97966719-97966720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181294541	chr4:97966917-97966918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377177721	chr4:97966949-97966950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574118849	chr4:97966962-97966963	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97960000-97966000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:97964200-97965800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:97964200-97966000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:97964400-97965800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:97965600-97967000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:97965800-97966200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:97965800-97966800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:97966000-97966600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr4:97966000-97966600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:97966000-97967000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:97966000-97967000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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