Variant report

Variant	esv2763819
Chromosome Location	chr4:92074042-92081565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7684372	chr4:92074042-92074043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553934734	chr4:92074084-92074085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190764375	chr4:92074111-92074112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536758953	chr4:92074129-92074130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2079115	chr4:92074133-92074134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78627914	chr4:92074157-92074158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373109007	chr4:92074175-92074176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183079550	chr4:92074213-92074214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7684465	chr4:92074246-92074247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545669243	chr4:92074247-92074248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187410205	chr4:92074250-92074251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572600294	chr4:92074272-92074273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534918420	chr4:92074333-92074334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541222000	chr4:92074349-92074350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561543085	chr4:92074356-92074357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550896631	chr4:92074357-92074358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528924040	chr4:92074367-92074368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542338794	chr4:92074374-92074375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562126902	chr4:92074389-92074390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141171213	chr4:92074424-92074425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11722821	chr4:92074427-92074428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563727133	chr4:92074434-92074435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543759645	chr4:92074448-92074449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191047262	chr4:92074449-92074450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547240251	chr4:92074452-92074453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567490625	chr4:92074453-92074454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3207482	chr4:92074454-92074455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556730300	chr4:92074468-92074469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570057725	chr4:92074480-92074481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538706039	chr4:92074487-92074488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558916773	chr4:92074508-92074509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139201423	chr4:92074535-92074536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143696621	chr4:92074536-92074537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554717727	chr4:92074586-92074587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533672305	chr4:92074596-92074597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183245502	chr4:92074620-92074621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112350021	chr4:92074641-92074642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562287576	chr4:92074651-92074652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187735396	chr4:92074672-92074673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544637545	chr4:92074676-92074677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564910979	chr4:92074695-92074696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527563480	chr4:92074703-92074704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555579860	chr4:92074705-92074706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147198433	chr4:92074707-92074708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192705449	chr4:92074721-92074722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529956741	chr4:92074767-92074768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78396301	chr4:92074779-92074780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550297173	chr4:92074798-92074799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570119931	chr4:92074801-92074802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539135106	chr4:92074817-92074818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Multiple myeloma	17550852	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92068400-92075400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:92075400-92075800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:92075600-92075800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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