Variant report

Variant	nsv997272
Chromosome Location	chr4:58047609-58100571
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	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
2	chr4:58056446..58057481-chr4:58169186..58169817,3	MCF-7	breast:
3	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:
4	chr4:58029500..58030425-chr4:58077363..58078281,2	K562	blood:
5	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
6	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 2072 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2072 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6554437	chr4:58047609-58047610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555604390	chr4:58047617-58047618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565960376	chr4:58047620-58047621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534968533	chr4:58047645-58047646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558011853	chr4:58047663-58047664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183239459	chr4:58047674-58047675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543584577	chr4:58047695-58047696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543672401	chr4:58047709-58047710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545241705	chr4:58047749-58047750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557179739	chr4:58047754-58047755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573847134	chr4:58047803-58047804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375786699	chr4:58047807-58047808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6851049	chr4:58047813-58047814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114347541	chr4:58047914-58047915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187269213	chr4:58047965-58047966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190548979	chr4:58047966-58047967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564875852	chr4:58047995-58047996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530499344	chr4:58047999-58048000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62310773	chr4:58048010-58048011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182474360	chr4:58048028-58048029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139345716	chr4:58048045-58048046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549267403	chr4:58048071-58048072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150044702	chr4:58048074-58048075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115344688	chr4:58048094-58048095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188089939	chr4:58048103-58048104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543291374	chr4:58048109-58048110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537558199	chr4:58048145-58048146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561466209	chr4:58048175-58048176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375959486	chr4:58048246-58048247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200609184	chr4:58048247-58048248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192706443	chr4:58048295-58048296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375115406	chr4:58048296-58048297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111747854	chr4:58048299-58048300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573886682	chr4:58048302-58048303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536412697	chr4:58048303-58048304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553033978	chr4:58048304-58048305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573087466	chr4:58048455-58048456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76044267	chr4:58048492-58048493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564878899	chr4:58048512-58048513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145242526	chr4:58048513-58048514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533473168	chr4:58048533-58048534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543923825	chr4:58048571-58048572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546992510	chr4:58048593-58048594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372069698	chr4:58048653-58048654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560601733	chr4:58048688-58048689	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs184507015	chr4:58048704-58048705	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs368533557	chr4:58048738-58048739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149177166	chr4:58048765-58048766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs372756177	chr4:58048815-58048816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77814927	chr4:58048841-58048842	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	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:369 , 50 per page) page: 1 2 3 4 5 6 7 8

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

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