Variant report

Variant	esv3465487
Chromosome Location	chr4:73831085-73831889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148907839	chr4:73831155-73831156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143432576	chr4:73831215-73831216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555964950	chr4:73831232-73831233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111966465	chr4:73831248-73831249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115985272	chr4:73831259-73831260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34080573	chr4:73831266-73831267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201432008	chr4:73831272-73831273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147989337	chr4:73831289-73831290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560044397	chr4:73831307-73831308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563014867	chr4:73831361-73831362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78884384	chr4:73831383-73831384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540662724	chr4:73831419-73831420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201455469	chr4:73831461-73831462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34047184	chr4:73831531-73831532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28445236	chr4:73831546-73831547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527423392	chr4:73831548-73831549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187341330	chr4:73831607-73831608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563055689	chr4:73831611-73831612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548717327	chr4:73831687-73831688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144394564	chr4:73831689-73831690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28657490	chr4:73831695-73831696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191066919	chr4:73831715-73831716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567210487	chr4:73831740-73831741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533511063	chr4:73831758-73831759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28718630	chr4:73831761-73831762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs28587548	chr4:73831798-73831799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143300535	chr4:73831820-73831821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537964389	chr4:73831826-73831827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537967068	chr4:73831827-73831828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182710487	chr4:73831875-73831876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73825400-73835600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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