Variant report

Variant	esv2059440
Chromosome Location	chr4:160479875-160480286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373553207	chr4:160479891-160479892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144877750	chr4:160479918-160479919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552201173	chr4:160479929-160479930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527450049	chr4:160479944-160479945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4493488	chr4:160479949-160479950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182473650	chr4:160479956-160479957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563250813	chr4:160479963-160479964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548280598	chr4:160479964-160479965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145828217	chr4:160479966-160479967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369309330	chr4:160479995-160479996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372622110	chr4:160480029-160480030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568532525	chr4:160480051-160480052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532195600	chr4:160480056-160480057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386681268	chr4:160480057-160480058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551891250	chr4:160480063-160480064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13137785	chr4:160480068-160480069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200950343	chr4:160480090-160480091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534407180	chr4:160480096-160480097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374813192	chr4:160480102-160480103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4607168	chr4:160480104-160480105	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570799020	chr4:160480108-160480109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374521141	chr4:160480132-160480133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539789022	chr4:160480154-160480155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187474295	chr4:160480165-160480166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576060762	chr4:160480192-160480193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541932462	chr4:160480196-160480197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540566569	chr4:160480286-160480287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160478800-160480000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:160479000-160480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:160479400-160480600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:160479600-160506800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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