Variant report

Variant	esv3362498
Chromosome Location	chr4:151577852-151579950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551742083	chr4:151577857-151577858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550152924	chr4:151577867-151577868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150197747	chr4:151577876-151577877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183549145	chr4:151577883-151577884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569198602	chr4:151577890-151577891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138778572	chr4:151577934-151577935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141654490	chr4:151577942-151577943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369660220	chr4:151577944-151577945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74515055	chr4:151577950-151577951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187896430	chr4:151578018-151578019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538298727	chr4:151578029-151578030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138472903	chr4:151578036-151578037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571875072	chr4:151578051-151578052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534481684	chr4:151578115-151578116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566639796	chr4:151578189-151578190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374791917	chr4:151578222-151578223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533699594	chr4:151578228-151578229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554424039	chr4:151578328-151578329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192374187	chr4:151578337-151578338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558608667	chr4:151578348-151578349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183845610	chr4:151578350-151578351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144018939	chr4:151578360-151578361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61516869	chr4:151578393-151578394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545096657	chr4:151578394-151578395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565264959	chr4:151578429-151578430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527594651	chr4:151578467-151578468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540897475	chr4:151578508-151578509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74679506	chr4:151578537-151578538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11099773	chr4:151578579-151578580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189052896	chr4:151578660-151578661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555923259	chr4:151578706-151578707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377030144	chr4:151578707-151578708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532215191	chr4:151578711-151578712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555709596	chr4:151578733-151578734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192965986	chr4:151578735-151578736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113864296	chr4:151578744-151578745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62346260	chr4:151578754-151578755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534520430	chr4:151578765-151578766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148380551	chr4:151578777-151578778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534221797	chr4:151578861-151578862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141613633	chr4:151578883-151578884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536892124	chr4:151578952-151578953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184682477	chr4:151578969-151578970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576494772	chr4:151579009-151579010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190397868	chr4:151579107-151579108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4270570	chr4:151579165-151579166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572059952	chr4:151579203-151579204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112101707	chr4:151579217-151579218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181548172	chr4:151579239-151579240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567307991	chr4:151579248-151579249	Weak transcription	n/a	n/a	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:19 , 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	chr4:151559400-151578200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:151571200-151601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:151571200-151604600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:151573200-151583800	Weak transcription	Lung	lung
9	chr4:151574800-151601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:151575800-151581400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:151576600-151585600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:151577200-151582400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:151577600-151637000	Weak transcription	Primary T cells from cord blood	blood
14	chr4:151578000-151578800	Enhancers	HUVEC	blood vessel
15	chr4:151578200-151578600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:151578400-151578600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:151578600-151582200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:151578600-151589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:151579400-151604400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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