Variant report

Variant	esv3444751
Chromosome Location	chr4:151570456-151571024
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	chr4:151560922..151562744-chr4:151569482..151572211,2	K562	blood:
2	chr4:151566001..151568464-chr4:151569208..151571956,2	K562	blood:

Variant related genes	Relation type
ENSG00000221235	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533822314	chr4:151570467-151570468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187487917	chr4:151570477-151570478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551109726	chr4:151570520-151570521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569033216	chr4:151570521-151570522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535960891	chr4:151570584-151570585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555791086	chr4:151570607-151570608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111845661	chr4:151570617-151570618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544649067	chr4:151570629-151570630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558267276	chr4:151570636-151570637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536315807	chr4:151570668-151570669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10025414	chr4:151570686-151570687	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540555824	chr4:151570697-151570698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560754950	chr4:151570698-151570699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566503975	chr4:151570740-151570741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140409179	chr4:151570788-151570789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543147482	chr4:151570815-151570816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563010628	chr4:151570825-151570826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534962110	chr4:151570839-151570840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553359820	chr4:151570906-151570907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552980812	chr4:151570973-151570974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Intellectual disability	22102821	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
Esophageal squamous carcinoma	18350619	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	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
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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151533400-151596200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:151554800-151585200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:151555800-151585600	Weak transcription	Primary B cells from cord blood	blood
5	chr4:151558600-151574200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:151559200-151577000	Weak transcription	Primary T cells from cord blood	blood
7	chr4:151559400-151578200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:151568800-151571200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:151568800-151573000	Weak transcription	Lung	lung
10	chr4:151569000-151571400	Weak transcription	Muscle Satellite Cultured Cells	--

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