Variant report

Variant	nsv879044
Chromosome Location	chr4:59661775-59799872
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:2)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:59709166..59709865-chr8:124956173..124956896,2	MCF-7	breast:
2	chr4:59728253..59729166-chr6:123431104..123432018,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGFBP7-5	chr4:59727050-59727134	ENSG00000251339
2	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
3	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
4	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
5	lnc-IGFBP7-5	chr4:59723790-59723913	XLOC_003962
6	lnc-IGFBP7-5	chr4:59727050-59727134	NONHSAT096581
7	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
8	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
9	lnc-IGFBP7-5	chr4:59726676-59726773	XLOC_003962
10	lnc-IGFBP7-5	chr4:59717135-59717370	ENSG00000251339
11	lnc-IGFBP7-5	chr4:59713333-59713530	XLOC_003962
12	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
13	lnc-IGFBP7-5	chr4:59717359-59717370	XLOC_003962

No data

Variant related genes	Relation type
KLF4	miRNA target sites
FLI1	miRNA target sites

Extended variants
information (count: 640 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571907500	chr4:59673409-59673410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552493386	chr4:59673423-59673424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564804468	chr4:59673431-59673432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35798062	chr4:59673433-59673434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13140955	chr4:59673434-59673435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543352310	chr4:59673436-59673437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564733532	chr4:59673483-59673484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553368897	chr4:59673525-59673526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1449032	chr4:59673611-59673612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545443937	chr4:59673634-59673635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1449031	chr4:59673650-59673651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73200759	chr4:59673665-59673666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184377641	chr4:59673704-59673705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17218364	chr4:59673719-59673720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1449030	chr4:59673724-59673725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531222781	chr4:59673787-59673788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188913065	chr4:59673798-59673799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571009938	chr4:59673816-59673817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141909940	chr4:59673858-59673859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553557596	chr4:59673866-59673867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6850012	chr4:59673951-59673952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561160335	chr4:59673954-59673955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565745961	chr4:59673999-59674000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374110645	chr4:59674032-59674033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554539994	chr4:59674050-59674051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6850205	chr4:59674052-59674053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543264967	chr4:59674053-59674054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558435556	chr4:59674093-59674094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6853837	chr4:59674165-59674166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541245101	chr4:59674171-59674172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374723716	chr4:59674209-59674210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576398849	chr4:59674230-59674231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6831809	chr4:59674231-59674232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145636973	chr4:59674239-59674240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77445088	chr4:59674253-59674254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369541147	chr4:59674259-59674260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530932212	chr4:59674290-59674291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552864403	chr4:59674314-59674315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74444428	chr4:59674346-59674347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397731813	chr4:59674350-59674351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199957922	chr4:59674352-59674353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564787059	chr4:59674374-59674375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572177029	chr4:59674400-59674401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528822505	chr4:59674451-59674452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17051491	chr4:59674475-59674476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568601156	chr4:59674485-59674486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375333928	chr4:59674492-59674493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115862127	chr4:59674494-59674495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147727886	chr4:59674524-59674525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13149936	chr4:59674527-59674528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59673400-59675400	Enhancers	A549	lung
2	chr4:59673600-59673800	Enhancers	Placenta	Placenta
3	chr4:59673800-59674600	Weak transcription	Placenta	Placenta
4	chr4:59674600-59676000	Enhancers	Placenta	Placenta
5	chr4:59674600-59676200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:59674600-59676200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:59675200-59676200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:59675400-59676200	Flanking Active TSS	A549	lung
9	chr4:59675600-59676000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:59675600-59676200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:59675600-59676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:59675600-59676200	Enhancers	Fetal Intestine Small	intestine
13	chr4:59676000-59676800	Weak transcription	Placenta	Placenta
14	chr4:59676200-59677600	Enhancers	A549	lung
15	chr4:59676200-59677800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:59676800-59677400	Enhancers	Placenta	Placenta
17	chr4:59677400-59682800	Weak transcription	Placenta	Placenta
18	chr4:59678000-59678200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:59682800-59683200	Enhancers	Placenta	Placenta
20	chr4:59683200-59684600	Weak transcription	Placenta	Placenta
21	chr4:59684600-59685200	Enhancers	Placenta	Placenta
22	chr4:59700600-59701000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:59707600-59708200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:59723000-59723200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:59737800-59738400	Enhancers	A549	lung

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