Variant report

Variant	nsv830049
Chromosome Location	chr4:124793932-124955708
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:25)
LncRNA
region (count:32)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:124953673..124956153-chr4:124956275..124958591,2	K562	blood:
2	chr4:124946011..124949360-chr4:124952812..124956213,3	K562	blood:
3	chr4:124953803..124954442-chr9:110731103..110731979,2	MCF-7	breast:
4	chr4:124908353..124909167-chrX:18527422..18528088,2	MCF-7	breast:
5	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:
6	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:
7	chr4:124830712..124832385-chr4:124840886..124843472,2	K562	blood:
8	chr4:124797782..124800401-chr4:124803423..124805795,2	K562	blood:
9	chr4:124807453..124810257-chr4:124819316..124821753,2	K562	blood:
10	chr4:124946328..124947831-chr4:124951765..124954577,2	K562	blood:
11	chr4:124861115..124863885-chr4:124872326..124874671,2	K562	blood:
12	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:
13	chr4:124693285..124694245-chr4:124911389..124911929,2	MCF-7	breast:
14	chr4:124861115..124863885-chr4:124872326..124874671,2	K562	blood:
15	chr4:124870030..124872262-chr4:124875287..124877433,2	K562	blood:
16	chr4:124946328..124947831-chr4:124951765..124954577,2	K562	blood:
17	chr4:124797782..124800401-chr4:124803423..124805795,2	K562	blood:
18	chr4:124830712..124832385-chr4:124840886..124843472,2	K562	blood:
19	chr4:124946011..124949360-chr4:124952812..124956213,3	K562	blood:
20	chr4:124879304..124882242-chr4:124884057..124885854,3	MCF-7	breast:
21	chr4:124879304..124882242-chr4:124884057..124885854,3	MCF-7	breast:
22	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:
23	chr4:124870030..124872262-chr4:124875287..124877433,2	K562	blood:
24	chr4:124807453..124810257-chr4:124819316..124821753,2	K562	blood:
25	chr4:124693711..124694660-chr4:124911167..124912152,7	MCF-7	breast:

(count:32 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-2	chr4:124851403-124851509	ENSG00000249464
2	lnc-SPRY1-7	chr4:124802927-124802989	l_2723_chr4:124790799-124802989_ovary
3	lnc-ANKRD50-4	chr4:124949137-124949446	XLOC_004061
4	lnc-SPRY1-2	chr4:124851399-124852062	NONHSAT098194
5	lnc-SPRY1-3	chr4:124949080-124949117	NONHSAT098207
6	lnc-SPRY1-2	chr4:124851403-124851561	ENSG00000249464
7	lnc-SPRY1-3	chr4:124946445-124946758	NONHSAT098207
8	lnc-SPRY1-2	chr4:124815914-124815975	NONHSAT098194
9	lnc-SPRY1-2	chr4:124846339-124846492	NONHSAT098199
10	lnc-SPRY1-7	chr4:124802358-124802438	l_2723_chr4:124790799-124802989_ovary
11	lnc-ANKRD50-4	chr4:124946499-124946758	XLOC_004061
12	lnc-SPRY1-2	chr4:124850942-124851365	NONHSAT098194
13	lnc-SPRY1-2	chr4:124846339-124846492	ENSG00000249464
14	lnc-SPRY1-9	chr4:124914869-124914980	ucscGeneNc_uc003ifd_1
15	lnc-SPRY1-2	chr4:124828696-124829244	NONHSAT098194
16	lnc-SPRY1-3	chr4:124949136-124949446	NONHSAT098207
17	lnc-SPRY1-3	chr4:124949222-124949446	XLOC_003682
18	lnc-ANKRD50-4	chr4:124946454-124946758	XLOC_004061
19	lnc-SPRY1-2	chr4:124817328-124818022	NONHSAT098194
20	lnc-SPRY1-2	chr4:124846339-124846492	NONHSAT098194
21	lnc-ANKRD50-4	chr4:124946730-124946758	XLOC_004061
22	lnc-ANKRD50-4	chr4:124949137-124949518	XLOC_004061
23	lnc-SPRY1-2	chr4:124846337-124846492	NONHSAT098205
24	lnc-ANKRD50-4	chr4:124949130-124949512	XLOC_004061
25	lnc-SPRY1-2	chr4:124807004-124807375	NONHSAT098194
26	lnc-ANKRD50-4	chr4:124945249-124945483	XLOC_004061
27	lnc-SPRY1-2	chr4:124846339-124846492	ENSG00000249464
28	lnc-SPRY1-2	chr4:124850922-124851883	NONHSAT098205
29	lnc-SPRY1-2	chr4:124851403-124851518	NONHSAT098199
30	lnc-SPRY1-2	chr4:124806122-124806861	NONHSAT098194
31	lnc-SPRY1-2	chr4:124883090-124883820	NONHSAT098194
32	lnc-SPRY1-3	chr4:124949081-124949117	XLOC_003682

No data

Variant related genes	Relation type
PAPD5	miRNA target sites
KCTD11	miRNA target sites
LRRC1	miRNA target sites
VIM	miRNA target sites
ARPC5	miRNA target sites
CLINT1	miRNA target sites
AP1G1	miRNA target sites

Extended variants
information (count: 5310 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:5310 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572239928	chr4:124794046-124794047	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191865004	chr4:124794057-124794058	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576934292	chr4:124794099-124794100	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541005805	chr4:124794118-124794119	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs72672806	chr4:124794138-124794139	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537076426	chr4:124794140-124794141	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556669336	chr4:124794163-124794164	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs116732652	chr4:124794174-124794175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs573589507	chr4:124794181-124794182	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs986345	chr4:124794203-124794204	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs558729942	chr4:124794243-124794244	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113587814	chr4:124794263-124794264	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572267735	chr4:124794389-124794390	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78160219	chr4:124794411-124794412	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368989187	chr4:124794444-124794445	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs561407921	chr4:124794569-124794570	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574496703	chr4:124794599-124794600	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148048818	chr4:124794632-124794633	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs3097937	chr4:124794644-124794645	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76601542	chr4:124794672-124794673	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183717519	chr4:124794694-124794695	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114568299	chr4:124794702-124794703	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565898124	chr4:124794713-124794714	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528266178	chr4:124794729-124794730	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548057354	chr4:124794794-124794795	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs114922046	chr4:124794799-124794800	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536739877	chr4:124794815-124794816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10518305	chr4:124794846-124794847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531068642	chr4:124794847-124794848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570067556	chr4:124794869-124794870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545962045	chr4:124794928-124794929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186955511	chr4:124794990-124794991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192514235	chr4:124795023-124795024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534875456	chr4:124795043-124795044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528288982	chr4:124795049-124795050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80013340	chr4:124795068-124795069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554853292	chr4:124795082-124795083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528665066	chr4:124795138-124795139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574921908	chr4:124795223-124795224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185513924	chr4:124795261-124795262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543502523	chr4:124795273-124795274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142296975	chr4:124795336-124795337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532513805	chr4:124795374-124795375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78717948	chr4:124795392-124795393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568815451	chr4:124795419-124795420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145916193	chr4:124795421-124795422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528378600	chr4:124795430-124795431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548406340	chr4:124795445-124795446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561731958	chr4:124795469-124795470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10002195	chr4:124795483-124795484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124778600-124797600	Weak transcription	Ovary	ovary
2	chr4:124791200-124797400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:124791400-124797400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:124791400-124797800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:124791600-124794400	Enhancers	Psoas Muscle	Psoas
6	chr4:124791600-124795800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:124791600-124797400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:124793000-124796000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:124793000-124797600	Weak transcription	Fetal Lung	lung
10	chr4:124793000-124798000	Weak transcription	Left Ventricle	heart
11	chr4:124793200-124794600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr4:124793200-124795800	Weak transcription	Fetal Kidney	kidney
13	chr4:124793200-124797600	Weak transcription	HepG2	liver
14	chr4:124793600-124794800	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr4:124793600-124800200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:124793800-124797400	Weak transcription	Fetal Heart	heart
17	chr4:124794400-124813000	Weak transcription	Psoas Muscle	Psoas
18	chr4:124795800-124796200	Enhancers	Fetal Kidney	kidney
19	chr4:124796000-124798400	Enhancers	Fetal Muscle Leg	muscle
20	chr4:124796200-124797800	Weak transcription	Fetal Kidney	kidney
21	chr4:124797400-124797600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:124797400-124797800	Enhancers	Small Intestine	intestine
23	chr4:124797400-124798000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:124797400-124798200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:124797400-124798200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:124797400-124798600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:124797400-124799400	Enhancers	Fetal Heart	heart
28	chr4:124797600-124798000	Enhancers	Adipose Nuclei	Adipose
29	chr4:124797600-124798200	Enhancers	Fetal Stomach	stomach
30	chr4:124797600-124798400	Enhancers	Fetal Lung	lung
31	chr4:124797600-124798600	Enhancers	HepG2	liver
32	chr4:124797600-124799000	Enhancers	Ovary	ovary
33	chr4:124797800-124798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:124797800-124799000	Enhancers	Fetal Kidney	kidney
35	chr4:124798000-124798400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:124798400-124798800	Weak transcription	Fetal Lung	lung
37	chr4:124798400-124798800	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:124798800-124799000	Enhancers	Fetal Lung	lung
39	chr4:124798800-124799000	Enhancers	Fetal Muscle Leg	muscle
40	chr4:124799000-124799600	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:124799000-124806200	Weak transcription	Fetal Lung	lung
42	chr4:124799400-124813200	Weak transcription	Fetal Heart	heart
43	chr4:124799600-124800200	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr4:124799800-124806000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:124800200-124800400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:124800200-124800600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr4:124800200-124804200	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:124800400-124810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:124801600-124802000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:124806000-124806200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links