Variant report

Variant	nsv879042
Chromosome Location	chr4:59633744-59799872
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: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	chr4:59727050-59727134	XLOC_003962
2	lnc-IGFBP7-5	chr4:59717359-59717370	XLOC_003962
3	lnc-IGFBP7-5	chr4:59648710-59648807	XLOC_003962
4	lnc-IGFBP7-5	chr4:59727050-59727134	ENSG00000251339
5	lnc-IGFBP7-5	chr4:59650201-59650426	XLOC_003962
6	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
7	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
8	lnc-IGFBP7-5	chr4:59713333-59713530	XLOC_003962
9	lnc-IGFBP7-5	chr4:59717135-59717370	ENSG00000251339
10	lnc-IGFBP7-5	chr4:59723790-59723913	XLOC_003962
11	lnc-IGFBP7-5	chr4:59726676-59726773	XLOC_003962
12	lnc-IGFBP7-5	chr4:59727050-59727134	NONHSAT096581
13	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
14	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962
15	lnc-IGFBP7-5	chr4:59646791-59647291	XLOC_003962
16	lnc-IGFBP7-5	chr4:59727050-59727134	XLOC_003962

No data

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

Extended variants
information (count: 722 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:722 , 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	rs1463168	chr4:59633744-59633745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550049168	chr4:59633778-59633779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542957968	chr4:59639440-59639441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs17237959	chr4:59639441-59639442	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111459030	chr4:59639459-59639460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs180973116	chr4:59639478-59639479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs17051458	chr4:59639485-59639486	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532511015	chr4:59639493-59639494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547726341	chr4:59639507-59639508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185843749	chr4:59639541-59639542	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190654771	chr4:59639554-59639555	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12649827	chr4:59639606-59639607	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150573150	chr4:59639625-59639626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77900858	chr4:59639645-59639646	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552502969	chr4:59639656-59639657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138106838	chr4:59639658-59639659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571273044	chr4:59639659-59639660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538376400	chr4:59639666-59639667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181803147	chr4:59639708-59639709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs12511119	chr4:59639709-59639710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536282540	chr4:59639710-59639711	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs139247926	chr4:59639716-59639717	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371945126	chr4:59639719-59639720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554901823	chr4:59639734-59639735	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576444983	chr4:59639787-59639788	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369310345	chr4:59639800-59639801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543603051	chr4:59639843-59639844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564937221	chr4:59639889-59639890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138585221	chr4:59639901-59639902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541183358	chr4:59639921-59639922	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373558525	chr4:59639926-59639927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs73198720	chr4:59639944-59639945	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530032438	chr4:59639948-59639949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548215133	chr4:59639956-59639957	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201529998	chr4:59640841-59640842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570762029	chr4:59640861-59640862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115501397	chr4:59640901-59640902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544766506	chr4:59642400-59642401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563118137	chr4:59642404-59642405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72633330	chr4:59642449-59642450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184909789	chr4:59642483-59642484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564052676	chr4:59642497-59642498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565050413	chr4:59642505-59642506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567067183	chr4:59642542-59642543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528073278	chr4:59642565-59642566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372830707	chr4:59642609-59642610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546228938	chr4:59642655-59642656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532198602	chr4:59642669-59642670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561609280	chr4:59642724-59642725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34549328	chr4:59642752-59642753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59633000-59633800	Enhancers	A549	lung
2	chr4:59639400-59640000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:59640800-59641000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:59642400-59642800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:59642400-59642800	Enhancers	NH-A	brain
6	chr4:59673400-59675400	Enhancers	A549	lung
7	chr4:59673600-59673800	Enhancers	Placenta	Placenta
8	chr4:59673800-59674600	Weak transcription	Placenta	Placenta
9	chr4:59674600-59676000	Enhancers	Placenta	Placenta
10	chr4:59674600-59676200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:59674600-59676200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:59675200-59676200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:59675400-59676200	Flanking Active TSS	A549	lung
14	chr4:59675600-59676000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:59675600-59676200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:59675600-59676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:59675600-59676200	Enhancers	Fetal Intestine Small	intestine
18	chr4:59676000-59676800	Weak transcription	Placenta	Placenta
19	chr4:59676200-59677600	Enhancers	A549	lung
20	chr4:59676200-59677800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:59676800-59677400	Enhancers	Placenta	Placenta
22	chr4:59677400-59682800	Weak transcription	Placenta	Placenta
23	chr4:59678000-59678200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:59682800-59683200	Enhancers	Placenta	Placenta
25	chr4:59683200-59684600	Weak transcription	Placenta	Placenta
26	chr4:59684600-59685200	Enhancers	Placenta	Placenta
27	chr4:59700600-59701000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:59707600-59708200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:59723000-59723200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:59737800-59738400	Enhancers	A549	lung

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