Variant report

Variant	esv3431529
Chromosome Location	chr4:90823257-90824134
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	chr4:90817680..90820518-chr4:90823255..90825762,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537867393	chr4:90823266-90823267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369229006	chr4:90823272-90823273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78868935	chr4:90823273-90823274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59943783	chr4:90823275-90823276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199862963	chr4:90823276-90823277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs66485472	chr4:90823277-90823278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371238326	chr4:90823315-90823316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556565566	chr4:90823333-90823334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571591329	chr4:90823338-90823339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112249493	chr4:90823340-90823341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576616424	chr4:90823345-90823346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538917528	chr4:90823369-90823370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572573151	chr4:90823477-90823478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368146164	chr4:90823478-90823479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554052488	chr4:90823486-90823487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143698658	chr4:90823509-90823510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181395347	chr4:90823533-90823534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544145790	chr4:90823568-90823569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72657801	chr4:90823569-90823570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554379795	chr4:90823599-90823600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148843502	chr4:90823711-90823712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145376986	chr4:90823733-90823734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564518369	chr4:90823797-90823798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186505570	chr4:90823843-90823844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545291741	chr4:90823869-90823870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550429536	chr4:90823926-90823927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560789903	chr4:90823961-90823962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527889061	chr4:90823979-90823980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549519825	chr4:90824000-90824001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190168525	chr4:90824031-90824032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181719329	chr4:90824036-90824037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114884773	chr4:90824050-90824051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114316208	chr4:90824078-90824079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90820000-90827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:90822200-90827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:90822400-90826000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:90822800-90830600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:90823000-90824600	Enhancers	HUVEC	blood vessel
6	chr4:90823000-90825600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:90823000-90830400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:90823200-90825000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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