Variant report

Variant	nsv537105
Chromosome Location	chr4:59507478-59709535
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:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:59510253..59512567-chr4:59514784..59516735,2	K562	blood:
2	chr4:59709166..59709865-chr8:124956173..124956896,2	MCF-7	breast:
3	chr4:59616982..59619599-chr6:27805611..27807692,2	MCF-7	breast:
4	chr4:59510253..59512567-chr4:59514784..59516735,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGFBP7-5	chr4:59650201-59650426	XLOC_003962
2	lnc-IGFBP7-12	chr4:59535492-59535997	l_2652_chr4:59411765-59536344_testes
3	lnc-IGFBP7-5	chr4:59646791-59647291	XLOC_003962
4	lnc-IGFBP7-12	chr4:59536417-59536488	l_2652_chr4:59411765-59536344_testes
5	lnc-IGFBP7-12	chr4:59535998-59536344	l_2652_chr4:59411765-59536344_testes
6	lnc-IGFBP7-5	chr4:59648710-59648807	XLOC_003962

No data

Variant related genes	Relation type
ENSG00000184348	chromatin interactions
ENSG00000233822	chromatin interactions
PDCD6IP	miRNA target sites
PDCD6	miRNA target sites

Extended variants
information (count: 1982 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1982 , 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	rs542299188	chr4:59511631-59511632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560448602	chr4:59511637-59511638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs527636393	chr4:59511659-59511660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528012778	chr4:59511750-59511751	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549392641	chr4:59511838-59511839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143535046	chr4:59511882-59511883	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs116692771	chr4:59511886-59511887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs72630988	chr4:59511896-59511897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572565474	chr4:59511901-59511902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564576292	chr4:59511926-59511927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35886686	chr4:59511935-59511936	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564830731	chr4:59511955-59511956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557954483	chr4:59511961-59511962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530780560	chr4:59511968-59511969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572930155	chr4:59512007-59512008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534129927	chr4:59512012-59512013	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146270408	chr4:59512048-59512049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573745231	chr4:59512061-59512062	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548987189	chr4:59512070-59512071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544204642	chr4:59512073-59512074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148462295	chr4:59512095-59512096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560999426	chr4:59512096-59512097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545145605	chr4:59512108-59512109	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560769125	chr4:59512137-59512138	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527869019	chr4:59512179-59512180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543349032	chr4:59512240-59512241	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370966477	chr4:59512250-59512251	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181001988	chr4:59512274-59512275	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532000517	chr4:59512284-59512285	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550609172	chr4:59512285-59512286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568841521	chr4:59512309-59512310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs73821008	chr4:59512397-59512398	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115869070	chr4:59512400-59512401	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566700310	chr4:59512409-59512410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533745287	chr4:59512413-59512414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555096436	chr4:59512416-59512417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531841103	chr4:59512437-59512438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17089520	chr4:59512470-59512471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs184551703	chr4:59512480-59512481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556162696	chr4:59512483-59512484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577939855	chr4:59512507-59512508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142600621	chr4:59512558-59512559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553968591	chr4:59512575-59512576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4865342	chr4:59512591-59512592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs77339001	chr4:59512618-59512619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561431652	chr4:59512625-59512626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538853453	chr4:59512699-59512700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75481740	chr4:59512724-59512725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369044889	chr4:59512731-59512732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544106936	chr4:59512786-59512787	Enhancers	n/a	n/a	Overlapped CNVs	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
Cancer	22183965	CNVD
Melanoma	22183965	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	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59511600-59512400	Active TSS	Fetal Intestine Large	intestine
2	chr4:59511800-59512400	Active TSS	Fetal Intestine Small	intestine
3	chr4:59512400-59512600	Weak transcription	Fetal Intestine Large	intestine
4	chr4:59512600-59513000	Enhancers	Fetal Intestine Small	intestine
5	chr4:59512600-59513400	Enhancers	Fetal Intestine Large	intestine
6	chr4:59522800-59523000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:59522800-59523200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:59524400-59525200	Enhancers	Brain Germinal Matrix	brain
9	chr4:59524400-59525200	Enhancers	Brain Hippocampus Middle	brain
10	chr4:59528600-59529400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:59529400-59531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:59531000-59531400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:59531000-59534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:59531400-59535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:59532200-59532600	Enhancers	Gastric	stomach
16	chr4:59534400-59534800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:59534400-59535200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:59534400-59535200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:59534600-59535000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:59534600-59535200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:59534600-59535200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:59534800-59535200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:59534800-59538000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:59535200-59536800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:59538000-59541400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:59539600-59541800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr4:59540200-59541800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr4:59541200-59541400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:59541400-59542000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr4:59541800-59542800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:59542000-59542400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:59542200-59543200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:59542400-59543200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:59542400-59543200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:59542800-59543400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:59543400-59546000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:59545800-59546400	Enhancers	Fetal Lung	lung
38	chr4:59546000-59546800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:59552800-59555000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:59614400-59616800	Enhancers	Fetal Intestine Small	intestine
41	chr4:59614600-59615400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:59615200-59615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:59615200-59615800	Enhancers	Fetal Intestine Large	intestine
44	chr4:59615200-59616000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr4:59615400-59616000	Active TSS	Duodenum Mucosa	Duodenum
46	chr4:59623200-59623800	Active TSS	A549	lung
47	chr4:59626600-59627000	Enhancers	A549	lung
48	chr4:59626600-59627800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr4:59632800-59633200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:59633000-59633800	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links