Variant report

Variant	esv2512315
Chromosome Location	chr4:107437202-107438867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 78 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151161024	chr4:107437204-107437205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535459747	chr4:107437221-107437222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187992022	chr4:107437232-107437233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536243636	chr4:107437238-107437239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577005815	chr4:107437241-107437242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193002650	chr4:107437254-107437255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149831184	chr4:107437349-107437350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534543326	chr4:107437361-107437362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116195647	chr4:107437409-107437410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577338430	chr4:107437440-107437441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377477200	chr4:107437450-107437451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201604221	chr4:107437462-107437463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147944700	chr4:107437464-107437465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115012902	chr4:107437467-107437468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527797031	chr4:107437468-107437469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183385139	chr4:107437480-107437481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72877537	chr4:107437482-107437483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188775729	chr4:107437503-107437504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370703000	chr4:107437622-107437623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543115341	chr4:107437643-107437644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565433195	chr4:107437679-107437680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56250522	chr4:107437693-107437694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530918982	chr4:107437741-107437742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560799111	chr4:107437762-107437763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192433940	chr4:107437813-107437814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184974430	chr4:107437838-107437839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188129311	chr4:107437848-107437849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536681198	chr4:107437870-107437871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191451224	chr4:107437884-107437885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11943660	chr4:107437970-107437971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565655444	chr4:107437978-107437979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531714929	chr4:107437991-107437992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116037831	chr4:107437994-107437995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112910443	chr4:107438018-107438019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557531108	chr4:107438122-107438123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200661324	chr4:107438131-107438132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144192670	chr4:107438143-107438144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75528703	chr4:107438166-107438167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111914838	chr4:107438209-107438210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527867709	chr4:107438304-107438305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184679858	chr4:107438372-107438373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113946228	chr4:107438422-107438423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532617765	chr4:107438509-107438510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148845548	chr4:107438543-107438544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545676862	chr4:107438631-107438632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189541058	chr4:107438678-107438679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547592105	chr4:107438711-107438712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115757640	chr4:107438782-107438783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544459717	chr4:107438810-107438811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181554918	chr4:107438865-107438866	Weak transcription	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
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
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
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
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107415200-107450200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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