Variant report

Variant	nsv879878
Chromosome Location	chr4:124850901-124935698
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:13)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:124879304..124882242-chr4:124884057..124885854,3	MCF-7	breast:
2	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:
3	chr4:124861115..124863885-chr4:124872326..124874671,2	K562	blood:
4	chr4:124693711..124694660-chr4:124911167..124912152,7	MCF-7	breast:
5	chr4:124870030..124872262-chr4:124875287..124877433,2	K562	blood:
6	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:
7	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:
8	chr4:124879304..124882242-chr4:124884057..124885854,3	MCF-7	breast:
9	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:
10	chr4:124908353..124909167-chrX:18527422..18528088,2	MCF-7	breast:
11	chr4:124870030..124872262-chr4:124875287..124877433,2	K562	blood:
12	chr4:124861115..124863885-chr4:124872326..124874671,2	K562	blood:
13	chr4:124693285..124694245-chr4:124911389..124911929,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-2	chr4:124851403-124851561	ENSG00000249464
2	lnc-SPRY1-2	chr4:124850922-124851883	NONHSAT098205
3	lnc-SPRY1-2	chr4:124883090-124883820	NONHSAT098194
4	lnc-SPRY1-9	chr4:124914869-124914980	ucscGeneNc_uc003ifd_1
5	lnc-SPRY1-2	chr4:124851403-124851518	NONHSAT098199
6	lnc-SPRY1-2	chr4:124851403-124851509	ENSG00000249464
7	lnc-SPRY1-2	chr4:124850942-124851365	NONHSAT098194
8	lnc-SPRY1-2	chr4:124851399-124852062	NONHSAT098194

No data

Variant related genes	Relation type
ARPC5	miRNA target sites
KCTD11	miRNA target sites

Extended variants
information (count: 2776 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2776 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13151047	chr4:124850901-124850902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553995837	chr4:124850908-124850909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147452062	chr4:124850947-124850948	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs116281627	chr4:124851000-124851001	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs192853961	chr4:124851052-124851053	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs572757234	chr4:124851215-124851216	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs536637002	chr4:124851244-124851245	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs139919091	chr4:124851303-124851304	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs375051797	chr4:124851309-124851310	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570345827	chr4:124851377-124851378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs369274300	chr4:124851393-124851394	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs185406111	chr4:124851400-124851401	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs370188204	chr4:124851407-124851408	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs373460124	chr4:124851475-124851476	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs6838706	chr4:124851510-124851511	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149742355	chr4:124851539-124851540	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs552263827	chr4:124851566-124851567	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs144578427	chr4:124851602-124851603	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs116766466	chr4:124851663-124851664	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs114653211	chr4:124851669-124851670	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs574823972	chr4:124851672-124851673	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs543403321	chr4:124851673-124851674	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs534730118	chr4:124851709-124851710	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563278000	chr4:124851719-124851720	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs1048174	chr4:124851726-124851727	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527664007	chr4:124851813-124851814	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs369677463	chr4:124851875-124851876	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs148481878	chr4:124851884-124851885	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs573886167	chr4:124851894-124851895	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs368803482	chr4:124851901-124851902	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs115519066	chr4:124851909-124851910	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs561616419	chr4:124851924-124851925	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs530560860	chr4:124851943-124851944	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs199986065	chr4:124851952-124851953	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs550572075	chr4:124852004-124852005	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs142601602	chr4:124852031-124852032	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs189516923	chr4:124852169-124852170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111584531	chr4:124852174-124852175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185477151	chr4:124852186-124852187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534903210	chr4:124852217-124852218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187977667	chr4:124852250-124852251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377002808	chr4:124852259-124852260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568447256	chr4:124852311-124852312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537077077	chr4:124852332-124852333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146490378	chr4:124852333-124852334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576793766	chr4:124852342-124852343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545704872	chr4:124852375-124852376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373236528	chr4:124852410-124852411	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139468332	chr4:124852424-124852425	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs180889415	chr4:124852425-124852426	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124840000-124857800	Weak transcription	Fetal Intestine Small	intestine
2	chr4:124841200-124851200	Weak transcription	Left Ventricle	heart
3	chr4:124842600-124854800	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:124844400-124857800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:124845000-124857800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:124845200-124859000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:124846000-124857800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:124846200-124857400	Weak transcription	HSMM	muscle
9	chr4:124846800-124852400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:124849800-124855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:124850600-124851200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:124851800-124853000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:124852400-124852600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr4:124853000-124857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:124853800-124857400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:124854800-124855000	Enhancers	Fetal Muscle Leg	muscle
17	chr4:124855000-124855400	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:124855400-124855800	Enhancers	HSMMtube	muscle
19	chr4:124855400-124856000	Enhancers	Fetal Muscle Leg	muscle
20	chr4:124855800-124857600	Weak transcription	HSMMtube	muscle
21	chr4:124856000-124867600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:124856800-124862800	Enhancers	HUVEC	blood vessel
23	chr4:124857000-124858600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:124857000-124864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:124857200-124861000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:124857400-124858400	Enhancers	HSMM	muscle
27	chr4:124857400-124858800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:124857400-124859400	Enhancers	Fetal Lung	lung
29	chr4:124857600-124858200	Enhancers	HSMMtube	muscle
30	chr4:124857800-124858000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:124857800-124858600	Enhancers	Fetal Intestine Large	intestine
32	chr4:124857800-124858600	Enhancers	Stomach Mucosa	stomach
33	chr4:124857800-124859000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:124857800-124859000	Enhancers	Fetal Heart	heart
35	chr4:124857800-124859000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:124857800-124859200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr4:124857800-124859200	Enhancers	Fetal Intestine Small	intestine
38	chr4:124857800-124859400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr4:124857800-124859400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:124857800-124860200	Enhancers	Fetal Stomach	stomach
41	chr4:124858000-124858200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr4:124858000-124858200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:124858000-124858200	Enhancers	Ovary	ovary
44	chr4:124858000-124859000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:124858000-124859400	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:124858200-124859000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:124858200-124859000	Enhancers	Fetal Kidney	kidney
48	chr4:124858200-124860000	Enhancers	Colon Smooth Muscle	Colon
49	chr4:124858200-124862400	Weak transcription	HSMMtube	muscle
50	chr4:124858400-124858800	Weak transcription	HSMM	muscle

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