Variant report

Variant	esv1791789
Chromosome Location	chr4:131606179-131652629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:97890108..97893105-chr4:131617432..131619842,2	MCF-7	breast:
2	chr4:131523291..131525354-chr4:131632545..131634300,2	K562	blood:
3	chr4:131484502..131485054-chr4:131625879..131626789,3	MCF-7	breast:

Extended variants
information (count: 998 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556387972	chr4:131610201-131610202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574684687	chr4:131610221-131610222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116376155	chr4:131610246-131610247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1489447	chr4:131610306-131610307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187802072	chr4:131610314-131610315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75657140	chr4:131610319-131610320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564463040	chr4:131610341-131610342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531509420	chr4:131610399-131610400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550095415	chr4:131610444-131610445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561902331	chr4:131610474-131610475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374388792	chr4:131610476-131610477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571465415	chr4:131610499-131610500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529081321	chr4:131610572-131610573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547540938	chr4:131610633-131610634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565656191	chr4:131610642-131610643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149013587	chr4:131610659-131610660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191557222	chr4:131610690-131610691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569631211	chr4:131610705-131610706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73851912	chr4:131610715-131610716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556424837	chr4:131610747-131610748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547058597	chr4:131610755-131610756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28895575	chr4:131610766-131610767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535674505	chr4:131610793-131610794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1602056	chr4:131610797-131610798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572456791	chr4:131610818-131610819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546230431	chr4:131610837-131610838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543570443	chr4:131610893-131610894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541542304	chr4:131610944-131610945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557911200	chr4:131610945-131610946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs118102463	chr4:131610948-131610949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1602057	chr4:131610962-131610963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561938599	chr4:131610986-131610987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72932598	chr4:131610996-131610997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143808616	chr4:131610997-131610998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189185880	chr4:131619206-131619207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545709639	chr4:131619207-131619208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563906920	chr4:131619208-131619209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181549926	chr4:131619216-131619217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532995899	chr4:131619224-131619225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79700391	chr4:131619234-131619235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs144927231	chr4:131619236-131619237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561235010	chr4:131619248-131619249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs546367809	chr4:131619269-131619270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs565882907	chr4:131619273-131619274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs114945846	chr4:131619289-131619290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112896808	chr4:131619319-131619320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs199890833	chr4:131619327-131619328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78364630	chr4:131619328-131619329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369808245	chr4:131619329-131619330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs115937571	chr4:131619421-131619422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131610200-131611000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:131619200-131623200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:131620400-131621400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:131622800-131623000	Enhancers	HMEC	breast
5	chr4:131623000-131624000	Weak transcription	HMEC	breast
6	chr4:131623200-131623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:131623600-131624000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:131624000-131626200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:131624000-131626800	Enhancers	HMEC	breast
10	chr4:131624400-131626200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:131624400-131626200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:131624400-131626200	Enhancers	NHEK	skin
13	chr4:131626000-131626800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr4:131626800-131632600	Weak transcription	HMEC	breast
15	chr4:131628000-131631200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:131632400-131634800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:131632400-131634800	Enhancers	NHEK	skin
18	chr4:131632600-131634800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:131632600-131634800	Enhancers	HMEC	breast
20	chr4:131633000-131633400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:131633600-131634800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:131633800-131634600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:131639800-131643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:131641000-131641400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:131641400-131643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:131643000-131643800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:131643200-131643600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:131643200-131644400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:131643200-131644600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:131643400-131644000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:131643400-131644000	Enhancers	NHEK	skin
32	chr4:131643400-131645000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:131643600-131644000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:131643600-131644000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr4:131643600-131644000	Enhancers	HMEC	breast
36	chr4:131643600-131644200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:131643800-131644000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:131643800-131644200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:131643800-131644200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr4:131643800-131644200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:131644000-131644200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:131644200-131645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:131644200-131645400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:131645200-131645600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:131645600-131646000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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