Variant report

Variant	esv3467247
Chromosome Location	chr4:91930029-91937227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548507275	chr4:91930102-91930103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140027826	chr4:91930109-91930110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs544871429	chr4:91930110-91930111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62309832	chr4:91930120-91930121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537283089	chr4:91930131-91930132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs10433882	chr4:91930134-91930135	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577369404	chr4:91930135-91930136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147930641	chr4:91930140-91930141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370942916	chr4:91930147-91930148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191735881	chr4:91930179-91930180	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141720454	chr4:91930182-91930183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs6833255	chr4:91930203-91930204	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146961314	chr4:91930204-91930205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544366635	chr4:91930219-91930220	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564350468	chr4:91930232-91930233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532032887	chr4:91930243-91930244	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551902257	chr4:91930284-91930285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs182193055	chr4:91930311-91930312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528126088	chr4:91930333-91930334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs10433958	chr4:91930334-91930335	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568307184	chr4:91930409-91930410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187226862	chr4:91930423-91930424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550746035	chr4:91930424-91930425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570704262	chr4:91930425-91930426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190800483	chr4:91930435-91930436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553538480	chr4:91930460-91930461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573211532	chr4:91930476-91930477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573133500	chr4:91930513-91930514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535812753	chr4:91930536-91930537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182789197	chr4:91930572-91930573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144966536	chr4:91930580-91930581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562658364	chr4:91930593-91930594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370560232	chr4:91930594-91930595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544508176	chr4:91930595-91930596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187292278	chr4:91930596-91930597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190147555	chr4:91930604-91930605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182563045	chr4:91930611-91930612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6532265	chr4:91930612-91930613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7356176	chr4:91930627-91930628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs71596545	chr4:91930644-91930645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541765802	chr4:91930663-91930664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547594378	chr4:91930710-91930711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561527355	chr4:91930717-91930718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565888930	chr4:91930762-91930763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536572993	chr4:91930791-91930792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530821561	chr4:91930804-91930805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550933456	chr4:91930846-91930847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187560785	chr4:91930869-91930870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533190113	chr4:91930991-91930992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546837981	chr4:91931005-91931006	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 adenocarcinoma	18519675	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91924800-91933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:91930000-91930400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:91930400-91932600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:91932600-91933000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:91933600-91933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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