Variant report

Variant	esv3432387
Chromosome Location	chr4:118936804-118940202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563404149	chr4:118939201-118939202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181235157	chr4:118939209-118939210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545940623	chr4:118939235-118939236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185835151	chr4:118939238-118939239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189121637	chr4:118939239-118939240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115895280	chr4:118939242-118939243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17515340	chr4:118939270-118939271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572878941	chr4:118939327-118939328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182010374	chr4:118939341-118939342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551199719	chr4:118939379-118939380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571101524	chr4:118939419-118939420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187242089	chr4:118939431-118939432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552333706	chr4:118939449-118939450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565646467	chr4:118939452-118939453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139570510	chr4:118939546-118939547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534345931	chr4:118939550-118939551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554816273	chr4:118939570-118939571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574655400	chr4:118939598-118939599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10516643	chr4:118939612-118939613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556735270	chr4:118939705-118939706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72679156	chr4:118939722-118939723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530868444	chr4:118939737-118939738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370906376	chr4:118939776-118939777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116084963	chr4:118939801-118939802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17593632	chr4:118939835-118939836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs192034367	chr4:118939838-118939839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541866885	chr4:118939840-118939841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182611997	chr4:118939870-118939871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185346123	chr4:118939881-118939882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11098419	chr4:118939953-118939954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190200794	chr4:118939963-118939964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182833381	chr4:118939977-118939978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543589608	chr4:118940010-118940011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374776846	chr4:118940012-118940013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4403117	chr4:118940029-118940030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2389486	chr4:118940039-118940040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2389487	chr4:118940052-118940053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547883695	chr4:118940108-118940109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78994964	chr4:118940136-118940137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538550231	chr4:118940171-118940172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558130533	chr4:118940199-118940200	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118939200-118940400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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