Variant report

Variant	esv3414898
Chromosome Location	chr4:93998979-94001227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566824395	chr4:93999004-93999005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534938102	chr4:93999011-93999012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115034477	chr4:93999023-93999024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34155343	chr4:93999028-93999029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72665259	chr4:93999160-93999161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139690623	chr4:93999179-93999180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372212806	chr4:93999202-93999203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557059714	chr4:93999206-93999207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192473075	chr4:93999217-93999218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185842423	chr4:93999224-93999225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62308201	chr4:93999246-93999247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572472832	chr4:93999265-93999266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373523065	chr4:93999279-93999280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188307983	chr4:93999306-93999307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542153036	chr4:93999360-93999361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113031281	chr4:93999370-93999371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36015457	chr4:93999372-93999373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528563627	chr4:93999423-93999424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147898937	chr4:93999439-93999440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193181513	chr4:93999470-93999471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35114681	chr4:93999486-93999487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550883344	chr4:93999600-93999601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6816715	chr4:93999654-93999655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368290243	chr4:93999695-93999696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533269842	chr4:93999731-93999732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141677712	chr4:93999745-93999746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566887399	chr4:93999825-93999826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199618654	chr4:93999860-93999861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535828158	chr4:93999873-93999874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145206115	chr4:93999891-93999892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7660370	chr4:93999895-93999896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147637242	chr4:93999901-93999902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6148573	chr4:93999909-93999910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145009510	chr4:93999925-93999926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7435581	chr4:93999930-93999931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568353880	chr4:94000171-94000172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540077822	chr4:94000181-94000182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78683005	chr4:94000225-94000226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556882376	chr4:94000256-94000257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576943547	chr4:94000402-94000403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539177358	chr4:94000484-94000485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553020258	chr4:94000505-94000506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188539945	chr4:94000526-94000527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551666224	chr4:94000529-94000530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570553991	chr4:94000603-94000604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143188489	chr4:94000604-94000605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75911592	chr4:94000638-94000639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181288418	chr4:94000654-94000655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575539715	chr4:94000698-94000699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574055075	chr4:94000797-94000798	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93988400-94002000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93999400-94005800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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