Variant report

Variant	esv1851693
Chromosome Location	chr4:92209963-92240317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:
2	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs17211183	chr4:92209963-92209964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189996078	chr4:92210025-92210026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150501912	chr4:92210034-92210035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370346168	chr4:92210052-92210053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575698023	chr4:92210095-92210096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139450625	chr4:92210109-92210110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192696087	chr4:92210145-92210146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375930086	chr4:92210151-92210152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184640737	chr4:92210155-92210156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565657545	chr4:92210181-92210182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28645905	chr4:92210182-92210183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79933533	chr4:92210219-92210220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528201033	chr4:92210224-92210225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189004773	chr4:92210229-92210230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561388067	chr4:92210308-92210309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530387153	chr4:92210369-92210370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181489543	chr4:92210386-92210387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532756500	chr4:92210390-92210391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186508460	chr4:92210449-92210450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143516705	chr4:92210498-92210499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57409390	chr4:92210533-92210534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566668287	chr4:92210538-92210539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535992862	chr4:92210565-92210566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555856892	chr4:92210583-92210584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76793347	chr4:92218209-92218210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188299310	chr4:92218311-92218312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555458105	chr4:92218312-92218313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10033018	chr4:92218323-92218324	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs143806606	chr4:92218334-92218335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375853021	chr4:92218375-92218376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34754865	chr4:92218390-92218391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193289230	chr4:92218402-92218403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577774405	chr4:92218404-92218405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545502860	chr4:92218415-92218416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185626651	chr4:92218428-92218429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151098732	chr4:92218488-92218489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115087830	chr4:92218496-92218497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530872882	chr4:92218498-92218499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548767071	chr4:92218509-92218510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550596131	chr4:92218523-92218524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10011254	chr4:92218526-92218527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377247979	chr4:92218532-92218533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145852255	chr4:92218533-92218534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6834487	chr4:92218536-92218537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369072843	chr4:92218537-92218538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201802331	chr4:92218546-92218547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533116617	chr4:92218556-92218557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547140487	chr4:92218560-92218561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs59301474	chr4:92218570-92218571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189227816	chr4:92218572-92218573	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92206000-92210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:92209600-92210200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:92209800-92210000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:92209800-92210600	Enhancers	Fetal Intestine Small	intestine
5	chr4:92218200-92218600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:92218200-92218600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:92231000-92231400	Enhancers	Gastric	stomach
8	chr4:92234600-92235000	Enhancers	Adipose Nuclei	Adipose
9	chr4:92236200-92236800	Enhancers	Fetal Heart	heart
10	chr4:92236800-92238600	Weak transcription	Fetal Heart	heart
11	chr4:92238600-92239000	Enhancers	Fetal Heart	heart

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