Variant report

Variant	nsv470035
Chromosome Location	chr4:59631298-59729159
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:16)
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:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGFBP7-5	chr4:59726676-59726773	XLOC_003962
2	lnc-IGFBP7-5	chr4:59713333-59713530	XLOC_003962
3	lnc-IGFBP7-5	chr4:59648710-59648807	XLOC_003962
4	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
5	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
6	lnc-IGFBP7-5	chr4:59727050-59727134	ENSG00000251339
7	lnc-IGFBP7-5	chr4:59717359-59717370	XLOC_003962
8	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
9	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
10	lnc-IGFBP7-5	chr4:59727050-59727134	NONHSAT096581
11	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
12	lnc-IGFBP7-5	chr4:59650201-59650426	XLOC_003962
13	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
14	lnc-IGFBP7-5	chr4:59646791-59647291	XLOC_003962
15	lnc-IGFBP7-5	chr4:59723790-59723913	XLOC_003962
16	lnc-IGFBP7-5	chr4:59717135-59717370	ENSG00000251339

No data

Variant related genes	Relation type
FLI1	miRNA target sites
PDCD6IP	miRNA target sites
KLF4	miRNA target sites
PDCD6	miRNA target sites

Extended variants
information (count: 738 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146256922	chr4:59632823-59632824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533743204	chr4:59632869-59632870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397958058	chr4:59632883-59632884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567613480	chr4:59632898-59632899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386674865	chr4:59632911-59632912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111351872	chr4:59632912-59632913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2166995	chr4:59632913-59632914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578080333	chr4:59632965-59632966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7666280	chr4:59633011-59633012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191682004	chr4:59633084-59633085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148449941	chr4:59633089-59633090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542846791	chr4:59633100-59633101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114643903	chr4:59633125-59633126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528935465	chr4:59633169-59633170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543925786	chr4:59633171-59633172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373392771	chr4:59633207-59633208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562110717	chr4:59633215-59633216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13144080	chr4:59633228-59633229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551006900	chr4:59633229-59633230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566645049	chr4:59633230-59633231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7692502	chr4:59633262-59633263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7671418	chr4:59633286-59633287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142582486	chr4:59633290-59633291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538305856	chr4:59633293-59633294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373789651	chr4:59633320-59633321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183786102	chr4:59633323-59633324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7676583	chr4:59633324-59633325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539033431	chr4:59633344-59633345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554252334	chr4:59633367-59633368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373300617	chr4:59633387-59633388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9999040	chr4:59633391-59633392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571446547	chr4:59633404-59633405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371317218	chr4:59633421-59633422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576593566	chr4:59633451-59633452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543644258	chr4:59633476-59633477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150948195	chr4:59633493-59633494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577358189	chr4:59633524-59633525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533078465	chr4:59633609-59633610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552482289	chr4:59633645-59633646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560095985	chr4:59633647-59633648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527561380	chr4:59633648-59633649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369496731	chr4:59633706-59633707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571042515	chr4:59633707-59633708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113735018	chr4:59633714-59633715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149654211	chr4:59633731-59633732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1463168	chr4:59633744-59633745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550049168	chr4:59633778-59633779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542957968	chr4:59639440-59639441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs17237959	chr4:59639441-59639442	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs111459030	chr4:59639459-59639460	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59632800-59633200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:59633000-59633800	Enhancers	A549	lung
3	chr4:59639400-59640000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:59640800-59641000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:59642400-59642800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:59642400-59642800	Enhancers	NH-A	brain
7	chr4:59673400-59675400	Enhancers	A549	lung
8	chr4:59673600-59673800	Enhancers	Placenta	Placenta
9	chr4:59673800-59674600	Weak transcription	Placenta	Placenta
10	chr4:59674600-59676000	Enhancers	Placenta	Placenta
11	chr4:59674600-59676200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:59674600-59676200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:59675200-59676200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:59675400-59676200	Flanking Active TSS	A549	lung
15	chr4:59675600-59676000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:59675600-59676200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:59675600-59676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:59675600-59676200	Enhancers	Fetal Intestine Small	intestine
19	chr4:59676000-59676800	Weak transcription	Placenta	Placenta
20	chr4:59676200-59677600	Enhancers	A549	lung
21	chr4:59676200-59677800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:59676800-59677400	Enhancers	Placenta	Placenta
23	chr4:59677400-59682800	Weak transcription	Placenta	Placenta
24	chr4:59678000-59678200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:59682800-59683200	Enhancers	Placenta	Placenta
26	chr4:59683200-59684600	Weak transcription	Placenta	Placenta
27	chr4:59684600-59685200	Enhancers	Placenta	Placenta
28	chr4:59700600-59701000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:59707600-59708200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:59723000-59723200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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