Variant report

Variant	nsv879883
Chromosome Location	chr4:125732734-125767985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125766671..125769138-chr4:125772617..125775217,3	MCF-7	breast:
2	chr4:125741503..125743157-chr4:125746025..125748000,2	K562	blood:
3	chr4:125764608..125767385-chr4:125861503..125863790,2	MCF-7	breast:
4	chr4:125741503..125743157-chr4:125746025..125748000,2	K562	blood:

Extended variants
information (count: 1457 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1457 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10029225	chr4:125732734-125732735	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544368096	chr4:125732750-125732751	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185906866	chr4:125732761-125732762	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566480451	chr4:125732762-125732763	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190661133	chr4:125733004-125733005	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374169081	chr4:125733029-125733030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552243193	chr4:125733032-125733033	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571071458	chr4:125733059-125733060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561432488	chr4:125733074-125733075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538032588	chr4:125733077-125733078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538001304	chr4:125733111-125733112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181921011	chr4:125733117-125733118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575053329	chr4:125733118-125733119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs11946561	chr4:125733120-125733121	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554616254	chr4:125733152-125733153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572868606	chr4:125733274-125733275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187045862	chr4:125733275-125733276	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564809200	chr4:125733302-125733303	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577004533	chr4:125733303-125733304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544093536	chr4:125733304-125733305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577995070	chr4:125733341-125733342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76889622	chr4:125733346-125733347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562671842	chr4:125733381-125733382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370588679	chr4:125733382-125733383	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78931621	chr4:125733395-125733396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529940011	chr4:125733430-125733431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555988246	chr4:125733440-125733441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548038347	chr4:125733444-125733445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61185071	chr4:125733456-125733457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190509723	chr4:125733457-125733458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552667047	chr4:125733458-125733459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570841508	chr4:125733482-125733483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538309382	chr4:125733483-125733484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550110482	chr4:125733542-125733543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562788899	chr4:125733557-125733558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371155424	chr4:125733583-125733584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182983830	chr4:125733598-125733599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59635701	chr4:125733623-125733624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554504142	chr4:125733642-125733643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572905629	chr4:125733667-125733668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75166483	chr4:125733685-125733686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558495691	chr4:125733699-125733700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185820373	chr4:125733739-125733740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145952552	chr4:125733761-125733762	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562549180	chr4:125733812-125733813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369411117	chr4:125733816-125733817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190243174	chr4:125733839-125733840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541767415	chr4:125733891-125733892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112991285	chr4:125733899-125733900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183012926	chr4:125733904-125733905	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
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
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125724600-125759600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125731200-125733000	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:125731600-125733400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:125731800-125732800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:125732600-125733600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr4:125733400-125733800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr4:125733800-125734600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:125739000-125739400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:125754400-125755000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:125755200-125763000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:125755400-125755600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:125755400-125755800	Enhancers	Placenta	Placenta
13	chr4:125755600-125760800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:125759600-125762000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:125759800-125761200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:125760800-125761200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:125761200-125763000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:125762000-125763200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:125763000-125763400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:125763000-125763600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:125763200-125763600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:125763200-125763600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:125763400-125764600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:125763600-125765400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:125763600-125767400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:125765800-125767800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:125767200-125768200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:125767200-125768400	Enhancers	NHEK	skin
29	chr4:125767400-125768000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:125767400-125768000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:125767400-125768400	Enhancers	HMEC	breast
32	chr4:125767600-125768000	Enhancers	Esophagus	oesophagus
33	chr4:125767600-125768200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:125767600-125768200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:125767800-125768200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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