Variant report

Variant	esv3440371
Chromosome Location	chr4:151580127-151582875
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	chr4:151582858..151585760-chr4:151597594..151599780,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367855104	chr4:151580175-151580176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371297362	chr4:151580333-151580334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375024905	chr4:151580377-151580378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369170328	chr4:151580378-151580379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371624574	chr4:151580385-151580386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376544359	chr4:151580388-151580389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369479047	chr4:151580392-151580393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373912854	chr4:151580394-151580395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377722319	chr4:151580438-151580439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529358888	chr4:151580665-151580666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562303316	chr4:151580741-151580742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550820784	chr4:151580751-151580752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111848126	chr4:151580795-151580796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112072903	chr4:151580800-151580801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111831262	chr4:151580885-151580886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201576762	chr4:151580987-151580988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190683409	chr4:151581002-151581003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200013055	chr4:151581316-151581317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111499720	chr4:151581378-151581379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113727788	chr4:151581409-151581410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199843967	chr4:151581428-151581429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112446597	chr4:151581603-151581604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559534364	chr4:151581616-151581617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528170521	chr4:151581644-151581645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548239371	chr4:151581648-151581649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561632575	chr4:151581665-151581666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530348377	chr4:151581672-151581673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550402477	chr4:151581674-151581675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570162914	chr4:151581983-151581984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539262453	chr4:151582009-151582010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552351449	chr4:151582111-151582112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565865005	chr4:151582166-151582167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534778751	chr4:151582174-151582175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368969501	chr4:151582200-151582201	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530933181	chr4:151582228-151582229	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559512113	chr4:151582231-151582232	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567645539	chr4:151582263-151582264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs373160435	chr4:151582342-151582343	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536951600	chr4:151582343-151582344	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs557262111	chr4:151582344-151582345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534970017	chr4:151582391-151582392	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs546004129	chr4:151582394-151582395	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs559569006	chr4:151582396-151582397	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572990267	chr4:151582400-151582401	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541917669	chr4:151582401-151582402	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143260478	chr4:151582432-151582433	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530482995	chr4:151582439-151582440	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192580426	chr4:151582442-151582443	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564057246	chr4:151582444-151582445	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183297139	chr4:151582478-151582479	ZNF genes & repeats Weak transcription Strong transcription Enhancers	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:30 , 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	chr4:151571200-151601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:151571200-151604600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:151573200-151583800	Weak transcription	Lung	lung
8	chr4:151574800-151601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:151575800-151581400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:151576600-151585600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:151577200-151582400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:151577600-151637000	Weak transcription	Primary T cells from cord blood	blood
13	chr4:151578600-151582200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:151578600-151589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:151579400-151604400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:151581000-151584000	Weak transcription	Fetal Stomach	stomach
17	chr4:151581600-151582200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:151582200-151582600	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr4:151582200-151583800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:151582200-151642800	Weak transcription	Left Ventricle	heart
21	chr4:151582400-151582600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:151582400-151582600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr4:151582400-151582600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr4:151582400-151583000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:151582400-151583200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:151582400-151583200	Enhancers	NHEK	skin
27	chr4:151582600-151583400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:151582600-151583400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:151582600-151595800	Weak transcription	Fetal Intestine Small	intestine
30	chr4:151582800-151583000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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