Variant report

Variant	esv2605504
Chromosome Location	chr4:102435700-102437163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528581059	chr4:102435752-102435753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116283819	chr4:102435754-102435755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182295777	chr4:102435767-102435768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532355618	chr4:102435769-102435770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112038738	chr4:102435779-102435780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186609999	chr4:102435860-102435861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374066688	chr4:102435922-102435923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191851653	chr4:102435926-102435927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367677746	chr4:102435941-102435942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567006836	chr4:102435953-102435954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533695829	chr4:102435986-102435987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558672957	chr4:102435989-102435990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576943228	chr4:102436056-102436057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148510127	chr4:102436078-102436079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1896114	chr4:102436115-102436116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556163716	chr4:102436138-102436139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574794723	chr4:102436142-102436143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114953649	chr4:102436156-102436157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560137119	chr4:102436159-102436160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386677859	chr4:102436168-102436169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527470673	chr4:102436177-102436178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183263137	chr4:102436195-102436196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565016290	chr4:102436216-102436217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573592581	chr4:102436312-102436313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532441476	chr4:102436334-102436335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550575158	chr4:102436382-102436383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568868643	chr4:102436408-102436409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530328626	chr4:102436438-102436439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74737537	chr4:102436442-102436443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79848074	chr4:102436471-102436472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142654651	chr4:102436478-102436479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79718980	chr4:102436497-102436498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140529931	chr4:102436524-102436525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150594704	chr4:102436535-102436536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111610639	chr4:102436561-102436562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376959394	chr4:102436567-102436568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559168535	chr4:102436597-102436598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557508629	chr4:102436604-102436605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139905721	chr4:102436636-102436637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371127904	chr4:102436648-102436649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34846875	chr4:102436655-102436656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112028565	chr4:102436662-102436663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532121660	chr4:102436672-102436673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11097749	chr4:102436717-102436718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs143412595	chr4:102436793-102436794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543795476	chr4:102436825-102436826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541799640	chr4:102436843-102436844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562352923	chr4:102436854-102436855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146691784	chr4:102436857-102436858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3960817	chr4:102436875-102436876	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102435600-102437600	Enhancers	Fetal Heart	heart

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