Variant report

Variant	nsv1011079
Chromosome Location	chr4:58048797-58089140
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:6)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:58029500..58030425-chr4:58077363..58078281,2	K562	blood:
2	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
3	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
4	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:
5	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:
6	chr4:58056446..58057481-chr4:58169186..58169817,3	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR2B-1	chr4:58067299-58067381	XLOC_003547
2	lnc-POLR2B-1	chr4:58067299-58068163	XLOC_003547
3	lnc-POLR2B-1	chr4:58071240-58071464	NONHSAT096544
4	lnc-POLR2B-1	chr4:58070644-58070740	NONHSAT096554
5	lnc-POLR2B-1	chr4:58071240-58071676	XLOC_003547
6	lnc-POLR2B-1	chr4:58071240-58071627	XLOC_003547
7	lnc-POLR2B-1	chr4:58067952-58067986	XLOC_003547
8	lnc-POLR2B-1	chr4:58054336-58054485	ENSG00000245067.2
9	lnc-POLR2B-1	chr4:58071240-58071590	XLOC_003547
10	lnc-POLR2B-1	chr4:58070644-58070759	XLOC_003547
11	lnc-POLR2B-1	chr4:58067299-58067381	ENSG00000245067.2
12	lnc-POLR2B-1	chr4:58067584-58067986	XLOC_003547
13	lnc-POLR2B-1	chr4:58071240-58071465	ENSG00000245067.2
14	lnc-POLR2B-1	chr4:58069401-58069761	NONHSAT096554
15	lnc-POLR2B-1	chr4:58070644-58070759	ENSG00000245067.2
16	lnc-POLR2B-1	chr4:58067299-58067986	ENSG00000245067.2
17	lnc-POLR2B-1	chr4:58054431-58054485	XLOC_003547
18	lnc-POLR2B-1	chr4:58067299-58067381	XLOC_003547
19	lnc-POLR2B-1	chr4:58070644-58070759	ENSG00000245067.2
20	lnc-POLR2B-1	chr4:58070644-58070759	XLOC_003547
21	lnc-POLR2B-1	chr4:58071240-58071676	ENSG00000245067.2
22	lnc-POLR2B-1	chr4:58069674-58069736	XLOC_003547
23	lnc-POLR2B-1	chr4:58070307-58070759	XLOC_003547

No data

Variant related genes	Relation type
SPATS2	miRNA target sites
TMX3	miRNA target sites
HAUS3	miRNA target sites
INSIG2	miRNA target sites
INSIG1	miRNA target sites

Extended variants
information (count: 1507 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1507 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372756177	chr4:58048815-58048816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs77814927	chr4:58048841-58048842	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs374967233	chr4:58048847-58048848	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551752912	chr4:58048854-58048855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571692576	chr4:58048867-58048868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537399050	chr4:58048879-58048880	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369695470	chr4:58048900-58048901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368983877	chr4:58048925-58048926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74899362	chr4:58048952-58048953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551107155	chr4:58048968-58048969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567754781	chr4:58049026-58049027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536496676	chr4:58049030-58049031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566921354	chr4:58049055-58049056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10866443	chr4:58049078-58049079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532877466	chr4:58049079-58049080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187908372	chr4:58049097-58049098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558543552	chr4:58049117-58049118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79302284	chr4:58049141-58049142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10866444	chr4:58049157-58049158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560689380	chr4:58049179-58049180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4865196	chr4:58049193-58049194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542887816	chr4:58049241-58049242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559912557	chr4:58049250-58049251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528649555	chr4:58049359-58049360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552057294	chr4:58049434-58049435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565540103	chr4:58049449-58049450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530969449	chr4:58049468-58049469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550992916	chr4:58049562-58049563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144939815	chr4:58049604-58049605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530192049	chr4:58049814-58049815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555634499	chr4:58049832-58049833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373231601	chr4:58049871-58049872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146790136	chr4:58049886-58049887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538407591	chr4:58049904-58049905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558822059	chr4:58049922-58049923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568800692	chr4:58049927-58049928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192362376	chr4:58049942-58049943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554128942	chr4:58049964-58049965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377743140	chr4:58049967-58049968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566604730	chr4:58049970-58049971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs398107342	chr4:58049976-58049977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544839262	chr4:58049978-58049979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12646608	chr4:58049980-58049981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142870153	chr4:58049990-58049991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146510199	chr4:58049993-58049994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140376544	chr4:58050022-58050023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115959653	chr4:58050059-58050060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553543325	chr4:58050100-58050101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370037209	chr4:58050113-58050114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11133490	chr4:58050153-58050154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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	22183965	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58047400-58059600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:58047800-58049000	Enhancers	Fetal Muscle Leg	muscle
3	chr4:58047800-58049000	Enhancers	HSMMtube	muscle
4	chr4:58047800-58049200	Enhancers	Brain Substantia Nigra	brain
5	chr4:58047800-58049400	Enhancers	Brain Hippocampus Middle	brain
6	chr4:58048000-58048800	Enhancers	Spleen	Spleen
7	chr4:58048000-58049000	Enhancers	Brain Anterior Caudate	brain
8	chr4:58048000-58049800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:58048200-58049000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:58048200-58049000	Enhancers	Brain Angular Gyrus	brain
11	chr4:58048400-58048800	Enhancers	Fetal Muscle Trunk	muscle
12	chr4:58048400-58048800	Enhancers	Left Ventricle	heart
13	chr4:58048400-58048800	Enhancers	Right Ventricle	heart
14	chr4:58048400-58049000	Enhancers	Fetal Heart	heart
15	chr4:58048400-58049000	Enhancers	HSMM	muscle
16	chr4:58048600-58049000	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr4:58048600-58049000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr4:58048600-58049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:58048600-58059600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:58048800-58050600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:58049000-58049200	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:58049000-58049200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr4:58049000-58050400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:58049000-58050600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:58049000-58050600	Weak transcription	Brain Anterior Caudate	brain
26	chr4:58049000-58059400	Weak transcription	Brain Angular Gyrus	brain
27	chr4:58049200-58050000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:58049200-58050400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:58049200-58059200	Weak transcription	Brain Substantia Nigra	brain
30	chr4:58049400-58050400	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:58049800-58050200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:58049800-58051000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:58050000-58050200	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:58050200-58050800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:58050200-58054200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:58050400-58050600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:58050400-58050600	Enhancers	Fetal Muscle Leg	muscle
38	chr4:58050400-58050800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:58050400-58051200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:58050400-58051400	Enhancers	Brain Germinal Matrix	brain
41	chr4:58050400-58051600	Enhancers	Brain Hippocampus Middle	brain
42	chr4:58050400-58052400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:58050400-58054600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:58050600-58050800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:58050600-58050800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:58050600-58051200	Enhancers	Fetal Muscle Trunk	muscle
47	chr4:58050600-58051400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr4:58050600-58051400	Enhancers	Brain Anterior Caudate	brain
49	chr4:58050600-58051600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:58050600-58052200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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