Variant report

Variant	nsv879884
Chromosome Location	chr4:125791252-125841892
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
2	chr4:125808803..125809436-chr4:125885151..125885920,2	MCF-7	breast:
3	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
4	chr4:125632317..125635750-chr4:125823538..125828224,6	MCF-7	breast:
5	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
6	chr4:125633614..125636587-chr4:125806033..125809617,4	MCF-7	breast:
7	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
8	chr4:125825931..125828528-chr4:125854551..125857392,2	MCF-7	breast:
9	chr4:125633390..125635842-chr4:125801059..125802872,2	MCF-7	breast:
10	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
11	chr4:125632895..125634759-chr4:125807417..125811100,3	MCF-7	breast:
12	chr4:125631876..125635862-chr4:125822303..125828252,7	MCF-7	breast:
13	chr4:125779728..125782260-chr4:125791975..125794101,2	MCF-7	breast:
14	chr4:125782896..125785311-chr4:125806709..125809197,2	MCF-7	breast:
15	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 1958 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1958 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2086765	chr4:125791252-125791253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73845818	chr4:125791260-125791261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529047467	chr4:125791276-125791277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376730770	chr4:125791380-125791381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547707900	chr4:125791392-125791393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565816503	chr4:125791450-125791451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539497883	chr4:125791460-125791461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192370107	chr4:125791469-125791470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551691724	chr4:125791484-125791485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184624690	chr4:125791492-125791493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72683895	chr4:125791510-125791511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537151506	chr4:125791511-125791512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188944222	chr4:125791519-125791520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181523166	chr4:125791533-125791534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534883057	chr4:125791589-125791590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571749407	chr4:125793674-125793675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372955772	chr4:125793691-125793692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532802886	chr4:125793701-125793702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569488342	chr4:125793704-125793705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189853634	chr4:125793716-125793717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181176914	chr4:125793741-125793742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570188435	chr4:125793755-125793756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536548444	chr4:125793763-125793764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186141568	chr4:125793773-125793774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563183925	chr4:125793793-125793794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75091794	chr4:125793800-125793801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534596841	chr4:125793843-125793844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552696078	chr4:125793900-125793901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559002999	chr4:125793930-125793931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577309716	chr4:125793953-125793954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188283346	chr4:125793962-125793963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556737740	chr4:125793989-125793990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76859536	chr4:125794021-125794022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180765535	chr4:125794139-125794140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552137511	chr4:125794159-125794160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186449118	chr4:125794162-125794163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561218816	chr4:125794184-125794185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190855994	chr4:125794203-125794204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540629505	chr4:125794230-125794231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565422342	chr4:125794233-125794234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532663993	chr4:125794282-125794283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80088647	chr4:125794306-125794307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374998047	chr4:125794307-125794308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562962467	chr4:125794350-125794351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144980765	chr4:125794428-125794429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548636991	chr4:125794433-125794434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79526614	chr4:125794465-125794466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182012539	chr4:125794466-125794467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186559703	chr4:125794490-125794491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570863464	chr4:125794539-125794540	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
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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125787200-125791600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:125793600-125794800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:125793600-125794800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:125793600-125795000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:125793600-125796800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:125793800-125794600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:125793800-125794800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:125793800-125794800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:125793800-125795600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:125793800-125796400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:125793800-125796600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:125794000-125795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:125794000-125795000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:125794000-125796800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:125794400-125795000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr4:125794600-125794800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:125794600-125795400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:125794600-125795600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:125794800-125795200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:125794800-125795200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:125794800-125795200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:125794800-125795800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:125794800-125796000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:125795000-125795200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr4:125795000-125795200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr4:125795000-125795400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:125795000-125796200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:125795200-125795400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:125795200-125795400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:125795200-125795400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:125795200-125795400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:125795200-125796200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:125795400-125795600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr4:125795400-125795600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr4:125795400-125795600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:125795400-125795600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr4:125795400-125796000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:125795600-125796200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr4:125795600-125796600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:125795600-125796600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:125795600-125796600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:125795800-125796200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:125796000-125796800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:125796200-125796400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:125796200-125796600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:125796200-125797800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:125796400-125796600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr4:125796400-125796800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr4:125796400-125796800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:125796600-125797600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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