Variant report

Variant	nsv966216
Chromosome Location	chr4:125883945-125885615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:125883634..125885656-chr4:125893409..125896639,3	MCF-7	breast:
2	chr4:125878708..125881859-chr4:125882338..125884780,4	MCF-7	breast:
3	chr4:125875190..125876989-chr4:125883949..125885613,2	MCF-7	breast:
4	chr4:125633862..125636702-chr4:125883831..125887270,3	MCF-7	breast:
5	chr4:125631616..125633726-chr4:125883727..125886839,4	MCF-7	breast:
6	chr4:125883788..125886065-chr4:126011029..126013746,2	MCF-7	breast:
7	chr4:125631407..125634222-chr4:125882635..125885809,4	MCF-7	breast:
8	chr4:125882105..125884448-chr4:125895502..125897123,2	MCF-7	breast:
9	chr4:125879691..125882061-chr4:125882934..125885892,2	MCF-7	breast:
10	chr4:125884733..125886717-chr4:125893872..125895468,2	MCF-7	breast:
11	chr4:125808803..125809436-chr4:125885151..125885920,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187940341	chr4:125883963-125883964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544906450	chr4:125883972-125883973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556884920	chr4:125883984-125883985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191201762	chr4:125883987-125883988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542450870	chr4:125884047-125884048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10007010	chr4:125884054-125884055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573275885	chr4:125884062-125884063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114098841	chr4:125884079-125884080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535073343	chr4:125884110-125884111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565143280	chr4:125884114-125884115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182343072	chr4:125884168-125884169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553614276	chr4:125884172-125884173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187924442	chr4:125884219-125884220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560643246	chr4:125884231-125884232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369429381	chr4:125884232-125884233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568653805	chr4:125884233-125884234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150781269	chr4:125884234-125884235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs769310	chr4:125884259-125884260	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530300914	chr4:125884267-125884268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139129215	chr4:125884307-125884308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149490064	chr4:125884347-125884348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533586414	chr4:125884373-125884374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370641921	chr4:125884382-125884383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367739530	chr4:125884387-125884388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147154419	chr4:125884425-125884426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140306333	chr4:125884441-125884442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538289816	chr4:125884460-125884461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77861311	chr4:125884467-125884468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs59023009	chr4:125884478-125884479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192397831	chr4:125884504-125884505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183305017	chr4:125884534-125884535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554480026	chr4:125884540-125884541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144242775	chr4:125884542-125884543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573246211	chr4:125884590-125884591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540372607	chr4:125884699-125884700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540429191	chr4:125884705-125884706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13140808	chr4:125884714-125884715	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs370698210	chr4:125884729-125884730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544650872	chr4:125884735-125884736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563152774	chr4:125884752-125884753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530439293	chr4:125884753-125884754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548723440	chr4:125884755-125884756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560524819	chr4:125884760-125884761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527934886	chr4:125884769-125884770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529365081	chr4:125884799-125884800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187637291	chr4:125884821-125884822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549439460	chr4:125884889-125884890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546370687	chr4:125884906-125884907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111309530	chr4:125884927-125884928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373199205	chr4:125884928-125884929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125882800-125891800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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