Variant report

Variant	esv3389434
Chromosome Location	chr4:118809484-118810817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577362704	chr4:118809850-118809851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190212400	chr4:118809902-118809903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34570516	chr4:118809903-118809904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116726558	chr4:118809936-118809937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529112915	chr4:118809965-118809966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34087430	chr4:118809972-118809973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201129585	chr4:118809996-118809997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542787411	chr4:118809999-118810000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547925950	chr4:118810200-118810201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567731862	chr4:118810222-118810223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10015006	chr4:118810223-118810224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556713638	chr4:118810242-118810243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185599103	chr4:118810261-118810262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538954146	chr4:118810291-118810292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76913404	chr4:118810406-118810407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141098617	chr4:118810411-118810412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143463190	chr4:118810436-118810437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190527708	chr4:118810540-118810541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201033637	chr4:118810545-118810546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552715302	chr4:118810569-118810570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573680135	chr4:118810578-118810579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202147270	chr4:118810590-118810591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200477079	chr4:118810598-118810599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542500994	chr4:118810675-118810676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11935659	chr4:118810699-118810700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200761154	chr4:118810708-118810709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11407503	chr4:118810710-118810711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111921638	chr4:118810711-118810712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76472343	chr4:118810718-118810719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181923453	chr4:118810750-118810751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565140999	chr4:118810761-118810762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550047907	chr4:118810784-118810785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184964670	chr4:118810816-118810817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372591202	chr4:118810817-118810818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118809800-118810000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:118810200-118811200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:118810800-118812000	Enhancers	Dnd41	blood

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