Variant report

Variant	nsv461640
Chromosome Location	chr4:130962263-131003605
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:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130964047..130965735-chr4:130986640..130988918,2	MCF-7	breast:
2	chr4:130964047..130965735-chr4:130986640..130988918,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-6	chr4:130974815-130974929	ucscGeneNc_uc003igw_1
2	lnc-C4orf33-6	chr4:131003173-131003373	ucscGeneNc_uc003igw_1
3	lnc-C4orf33-6	chr4:130977976-130978030	ucscGeneNc_uc003igw_1
4	lnc-C4orf33-6	chr4:130965945-130966057	ucscGeneNc_uc003igw_1

No data

Extended variants
information (count: 1312 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1312 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1567193	chr4:130962263-130962264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115852368	chr4:130962273-130962274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7665451	chr4:130962301-130962302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551291614	chr4:130962349-130962350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541053614	chr4:130962366-130962367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569313177	chr4:130962381-130962382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183087211	chr4:130962403-130962404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371626161	chr4:130962419-130962420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150267657	chr4:130962454-130962455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573307972	chr4:130962462-130962463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138970286	chr4:130962486-130962487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558751393	chr4:130962533-130962534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149243445	chr4:130962543-130962544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28622101	chr4:130962567-130962568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562435642	chr4:130962591-130962592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574352435	chr4:130962626-130962627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188263685	chr4:130962637-130962638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541814963	chr4:130962638-130962639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533228228	chr4:130962652-130962653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527412895	chr4:130962739-130962740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554400176	chr4:130962750-130962751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139101140	chr4:130962762-130962763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374671608	chr4:130962845-130962846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532741655	chr4:130962856-130962857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561162784	chr4:130962901-130962902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142419509	chr4:130962911-130962912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569573504	chr4:130962920-130962921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536917837	chr4:130962981-130962982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548580399	chr4:130963014-130963015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193060118	chr4:130963053-130963054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534332009	chr4:130963128-130963129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369297058	chr4:130963152-130963153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558780738	chr4:130963181-130963182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576556540	chr4:130963209-130963210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9307620	chr4:130963247-130963248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537660591	chr4:130963283-130963284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555895558	chr4:130963316-130963317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376237869	chr4:130963326-130963327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185680034	chr4:130963344-130963345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560120118	chr4:130963368-130963369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190590159	chr4:130963414-130963415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35663063	chr4:130963442-130963443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201701474	chr4:130963445-130963446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79977943	chr4:130963446-130963447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545922732	chr4:130963466-130963467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145895417	chr4:130963534-130963535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564179131	chr4:130963537-130963538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145975654	chr4:130963574-130963575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544840539	chr4:130963575-130963576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563037472	chr4:130963582-130963583	Weak transcription	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
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
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130952600-130965000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:130954800-130966000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:130954800-130966200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:130954800-130966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:130959800-130966600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:130961000-130966000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:130962600-130963000	Enhancers	Liver	Liver
8	chr4:130963000-130964200	Weak transcription	Liver	Liver
9	chr4:130964200-130966600	Enhancers	Liver	Liver
10	chr4:130964400-130964600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:130964600-130966000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:130964800-130965200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:130965000-130965400	Enhancers	Dnd41	blood
14	chr4:130965000-130965800	Enhancers	HepG2	liver
15	chr4:130965000-130966400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:130965000-130967200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:130965200-130965800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:130965200-130966200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:130966000-130966600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:130966000-130966800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:130966000-130966800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:130966000-130966800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:130966000-130966800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:130966000-130966800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:130966000-130967000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:130966200-130966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:130966200-130967000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:130966400-130966800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:130966400-130966800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:130966400-130966800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:130966600-130966800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:130966600-130966800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:130966600-130967000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:130966800-130973200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:130967000-130973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:130973000-130973600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:130973200-130973400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr4:130973400-130975000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:130974200-130975600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:130974200-130976400	Enhancers	HepG2	liver
41	chr4:130974400-130975200	Enhancers	Liver	Liver
42	chr4:130974400-130975600	Enhancers	Dnd41	blood
43	chr4:130974800-130975400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:130974800-130975600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:130975000-130975200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:130975200-130975600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:130975200-130977200	Weak transcription	Liver	Liver
48	chr4:130975600-130977200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:130976200-130976400	Enhancers	Fetal Kidney	kidney
50	chr4:130977200-130977400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links