Variant report

Variant	esv3394142
Chromosome Location	chr4:94611179-94613177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116337944	chr4:94611284-94611285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578186835	chr4:94611297-94611298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111585466	chr4:94611375-94611376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76825993	chr4:94611380-94611381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72873091	chr4:94611412-94611413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538068779	chr4:94611423-94611424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556674875	chr4:94611428-94611429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541794148	chr4:94611437-94611438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78451599	chr4:94611455-94611456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188462796	chr4:94611468-94611469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557350025	chr4:94611508-94611509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576807486	chr4:94611532-94611533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545449295	chr4:94611621-94611622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191872788	chr4:94611636-94611637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553128075	chr4:94611683-94611684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572933616	chr4:94611693-94611694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183596452	chr4:94611783-94611784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6814829	chr4:94611914-94611915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530597608	chr4:94611980-94611981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6840457	chr4:94611989-94611990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10560405	chr4:94612047-94612048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201814203	chr4:94612070-94612071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6532429	chr4:94612207-94612208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145660658	chr4:94612233-94612234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552240486	chr4:94612236-94612237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541032201	chr4:94612418-94612419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565847334	chr4:94612478-94612479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17020997	chr4:94612539-94612540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34241564	chr4:94612548-94612549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189019096	chr4:94612553-94612554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568346928	chr4:94612580-94612581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17021000	chr4:94612620-94612621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557650286	chr4:94612639-94612640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180920954	chr4:94612641-94612642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6846733	chr4:94612667-94612668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187089001	chr4:94612673-94612674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553042702	chr4:94612682-94612683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572872714	chr4:94612783-94612784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377168153	chr4:94612803-94612804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535572387	chr4:94612863-94612864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17021003	chr4:94612899-94612900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575409792	chr4:94612922-94612923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190710273	chr4:94612925-94612926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564407993	chr4:94612949-94612950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17021004	chr4:94612982-94612983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540129359	chr4:94612987-94612988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116390855	chr4:94613002-94613003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551444775	chr4:94613012-94613013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528449876	chr4:94613033-94613034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181659833	chr4:94613060-94613061	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	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
Cancer	19907438	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
Glioma	20126413	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94607000-94612600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:94612600-94614000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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