Variant report

Variant	esv3467677
Chromosome Location	chr4:104199703-104204801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547372411	chr4:104199717-104199718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180785156	chr4:104199719-104199720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185445790	chr4:104199735-104199736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527978401	chr4:104199750-104199751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552543595	chr4:104199762-104199763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571003559	chr4:104199787-104199788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377482849	chr4:104199802-104199803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537983366	chr4:104199808-104199809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549878207	chr4:104199819-104199820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568187110	chr4:104199834-104199835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532972861	chr4:104199883-104199884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60695712	chr4:104199892-104199893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553708524	chr4:104199908-104199909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565874090	chr4:104199913-104199914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1289231	chr4:104199922-104199923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189906624	chr4:104199933-104199934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546760863	chr4:104199936-104199937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576167865	chr4:104199961-104199962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543617012	chr4:104199973-104199974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369996866	chr4:104199997-104199998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574402382	chr4:104200007-104200008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573739565	chr4:104200012-104200013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541069918	chr4:104200046-104200047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145084560	chr4:104200059-104200060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528005101	chr4:104200103-104200104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527541453	chr4:104200106-104200107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546461348	chr4:104200115-104200116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547030478	chr4:104200205-104200206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6533076	chr4:104200229-104200230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs531809711	chr4:104200241-104200242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78228995	chr4:104200248-104200249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575940804	chr4:104200291-104200292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529335166	chr4:104200292-104200293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111280530	chr4:104200310-104200311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536743333	chr4:104200328-104200329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535969629	chr4:104200329-104200330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555052211	chr4:104200335-104200336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558057301	chr4:104200345-104200346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183279441	chr4:104200402-104200403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149030881	chr4:104200418-104200419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143838854	chr4:104200454-104200455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573828803	chr4:104200493-104200494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541106681	chr4:104200504-104200505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552729122	chr4:104200540-104200541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577582313	chr4:104200617-104200618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544649829	chr4:104200664-104200665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564804200	chr4:104200681-104200682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201244910	chr4:104200686-104200687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189059689	chr4:104200717-104200718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543648352	chr4:104200745-104200746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104192800-104200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:104194600-104202600	Weak transcription	H1 Cell Line	embryonic stem cell

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