Variant report

Variant	esv3351199
Chromosome Location	chr4:93874879-93876977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117228090	chr4:93874890-93874891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76898225	chr4:93874892-93874893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538147802	chr4:93874897-93874898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535269721	chr4:93874924-93874925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531506711	chr4:93874998-93874999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551985521	chr4:93875005-93875006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550315632	chr4:93875026-93875027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5860299	chr4:93875046-93875047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3078478	chr4:93875047-93875048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62311176	chr4:93875068-93875069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547860418	chr4:93875071-93875072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148492921	chr4:93875230-93875231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574140203	chr4:93875251-93875252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369755279	chr4:93875258-93875259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145014538	chr4:93875274-93875275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147570439	chr4:93875311-93875312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575532237	chr4:93875315-93875316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189862672	chr4:93875321-93875322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564379749	chr4:93875332-93875333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183858975	chr4:93875338-93875339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200170537	chr4:93875339-93875340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112111354	chr4:93875340-93875341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536574716	chr4:93875343-93875344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189220747	chr4:93875352-93875353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114464235	chr4:93875360-93875361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543206675	chr4:93875385-93875386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549004130	chr4:93875389-93875390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548838640	chr4:93875396-93875397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529094624	chr4:93875400-93875401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562328612	chr4:93875483-93875484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532059590	chr4:93875515-93875516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7667251	chr4:93875521-93875522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201234510	chr4:93875564-93875565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559253025	chr4:93875565-93875566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551374693	chr4:93875574-93875575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202131765	chr4:93875590-93875591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200483979	chr4:93875592-93875593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199836628	chr4:93875593-93875594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191516397	chr4:93875617-93875618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537212503	chr4:93875640-93875641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34459306	chr4:93875648-93875649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183777894	chr4:93875676-93875677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536335544	chr4:93875677-93875678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187447789	chr4:93875678-93875679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576382582	chr4:93875683-93875684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375273768	chr4:93875735-93875736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368925798	chr4:93875738-93875739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538991431	chr4:93875772-93875773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372339974	chr4:93875933-93875934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376364607	chr4:93875999-93876000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Chronic lymphocytic leukemia	18922857	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
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93871200-93883400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:93871400-93883200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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