Variant report

Variant	nsv964313
Chromosome Location	chr4:127366199-127370561
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	chr4:127361553..127363076-chr4:127368662..127371476,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575521731	chr4:127366201-127366202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567509602	chr4:127366246-127366247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116597588	chr4:127366266-127366267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544806678	chr4:127366275-127366276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5861778	chr4:127366334-127366335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397880374	chr4:127366342-127366343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs581847	chr4:127366352-127366353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569260543	chr4:127366361-127366362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537818011	chr4:127366371-127366372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373390469	chr4:127366373-127366374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528099537	chr4:127366406-127366407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546582686	chr4:127366412-127366413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181437536	chr4:127366497-127366498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532107317	chr4:127366503-127366504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551184648	chr4:127366508-127366509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569336983	chr4:127366518-127366519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77627279	chr4:127366526-127366527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185000897	chr4:127366552-127366553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117938720	chr4:127366575-127366576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56009144	chr4:127366617-127366618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79937645	chr4:127366624-127366625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189512841	chr4:127366625-127366626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181053805	chr4:127366665-127366666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs610557	chr4:127366741-127366742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9996313	chr4:127366813-127366814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139613345	chr4:127366819-127366820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529758235	chr4:127366841-127366842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575362450	chr4:127366842-127366843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542776881	chr4:127366844-127366845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554914495	chr4:127366846-127366847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573167376	chr4:127366847-127366848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540280537	chr4:127366880-127366881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540729079	chr4:127366883-127366884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564854545	chr4:127366985-127366986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557275982	chr4:127367004-127367005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543988601	chr4:127367013-127367014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562576209	chr4:127367083-127367084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34491201	chr4:127367197-127367198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530234167	chr4:127367204-127367205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62323911	chr4:127367212-127367213	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566864373	chr4:127367221-127367222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575754661	chr4:127367235-127367236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542795831	chr4:127367253-127367254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572923254	chr4:127367256-127367257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72690206	chr4:127367260-127367261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28613980	chr4:127367306-127367307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34250914	chr4:127367320-127367321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573941353	chr4:127367334-127367335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149738131	chr4:127367348-127367349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76426127	chr4:127367369-127367370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127346200-127388400	Weak transcription	K562	blood
2	chr4:127361000-127367200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:127361000-127367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:127361400-127367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:127362800-127367200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:127363000-127367000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:127363000-127367000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:127363000-127367200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:127363000-127369400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:127363200-127367600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:127363200-127368200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:127363200-127368200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:127365800-127367400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:127366400-127367400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:127367000-127367400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:127367000-127368200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:127367000-127368600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:127367200-127367400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:127367200-127368400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:127367200-127368600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:127367400-127368400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:127367400-127372200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:127367600-127368800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:127368200-127368400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:127368200-127370800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:127368400-127368600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:127368400-127368800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:127368400-127369800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:127368600-127369000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:127368600-127370000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:127368800-127369400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:127368800-127369800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:127369000-127369400	Enhancers	NHDF-Ad	bronchial
34	chr4:127369000-127369600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:127369000-127369800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:127369000-127370000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:127369400-127369800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:127369400-127369800	Flanking Active TSS	NHDF-Ad	bronchial
39	chr4:127369400-127370000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:127369600-127372200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:127369800-127370000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:127369800-127370000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:127369800-127370200	Enhancers	NHDF-Ad	bronchial
44	chr4:127370000-127373400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:127370200-127372000	Weak transcription	NHDF-Ad	bronchial

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