Variant report

Variant	esv3511331
Chromosome Location	chr4:93820753-93825069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183852304	chr4:93821809-93821810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187780776	chr4:93821817-93821818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375891988	chr4:93821845-93821846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192445895	chr4:93821846-93821847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185056171	chr4:93821855-93821856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373268812	chr4:93821875-93821876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34089162	chr4:93821985-93821986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144047878	chr4:93822010-93822011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544220554	chr4:93822024-93822025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6818303	chr4:93822050-93822051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368627782	chr4:93822087-93822088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375755928	chr4:93822088-93822089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs70942936	chr4:93822100-93822101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201848305	chr4:93822101-93822102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189041284	chr4:93822182-93822183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566991639	chr4:93822199-93822200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547238649	chr4:93822213-93822214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560554790	chr4:93822226-93822227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs529466788	chr4:93822244-93822245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150224478	chr4:93822282-93822283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569322751	chr4:93822303-93822304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs537861151	chr4:93822313-93822314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551313927	chr4:93822324-93822325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs369752457	chr4:93822347-93822348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs563559176	chr4:93822428-93822429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs80313867	chr4:93822436-93822437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552834353	chr4:93822469-93822470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs28813669	chr4:93822476-93822477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368188254	chr4:93822494-93822495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs181903097	chr4:93822495-93822496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs138566963	chr4:93822535-93822536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs60291540	chr4:93822543-93822544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs575260866	chr4:93822553-93822554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544232723	chr4:93822614-93822615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184696914	chr4:93822625-93822626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577695110	chr4:93822647-93822648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs143577259	chr4:93822652-93822653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114572911	chr4:93822686-93822687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189631004	chr4:93822694-93822695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs180748146	chr4:93822744-93822745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201475214	chr4:93822924-93822925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs543166688	chr4:93822939-93822940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs185170505	chr4:93822965-93822966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201152026	chr4:93822970-93822971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188269561	chr4:93822974-93822975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373258158	chr4:93822975-93822976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs7667967	chr4:93822976-93822977	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114245379	chr4:93822978-93822979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527658442	chr4:93822980-93822981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs546624546	chr4:93823017-93823018	ZNF genes & repeats	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93821800-93822200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:93822200-93823200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:93823200-93823800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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