Variant report

Variant	nsv1028045
Chromosome Location	chr4:130965914-131004697
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:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 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:

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

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

No data

Extended variants
information (count: 1225 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11099028	chr4:130965914-130965915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147057083	chr4:130965915-130965916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145279719	chr4:130965925-130965926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6534761	chr4:130965930-130965931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567229296	chr4:130965959-130965960	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs180906548	chr4:130965983-130965984	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs530909162	chr4:130966014-130966015	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs553032691	chr4:130966039-130966040	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs185174817	chr4:130966093-130966094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543559539	chr4:130966099-130966100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539656622	chr4:130966121-130966122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76454341	chr4:130966130-130966131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190332168	chr4:130966150-130966151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1022009	chr4:130966165-130966166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550435241	chr4:130966177-130966178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544072495	chr4:130966180-130966181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555513029	chr4:130966192-130966193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573968125	chr4:130966207-130966208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76779894	chr4:130966237-130966238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559799040	chr4:130966264-130966265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1022008	chr4:130966269-130966270	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545238755	chr4:130966286-130966287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182767296	chr4:130966292-130966293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559239064	chr4:130966297-130966298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74649971	chr4:130966302-130966303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549241521	chr4:130966310-130966311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567199363	chr4:130966311-130966312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1022007	chr4:130966340-130966341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566285264	chr4:130966358-130966359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571027149	chr4:130966419-130966420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369937233	chr4:130966476-130966477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538320477	chr4:130966516-130966517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149189792	chr4:130966523-130966524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188192199	chr4:130966586-130966587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569899915	chr4:130966609-130966610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143365024	chr4:130966612-130966613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556021749	chr4:130966617-130966618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1022006	chr4:130966620-130966621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs67868780	chr4:130966661-130966662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191742143	chr4:130966665-130966666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148351013	chr4:130966668-130966669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142204595	chr4:130966697-130966698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17050819	chr4:130966755-130966756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563507560	chr4:130966768-130966769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574337593	chr4:130966789-130966790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145902908	chr4:130966823-130966824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1022005	chr4:130966863-130966864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35186060	chr4:130966927-130966928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369022107	chr4:130966930-130966931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71965201	chr4:130966940-130966941	Enhancers 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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130954800-130966000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:130954800-130966200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:130954800-130966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:130959800-130966600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:130961000-130966000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:130964200-130966600	Enhancers	Liver	Liver
7	chr4:130964600-130966000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:130965000-130966400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:130965000-130967200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:130965200-130966200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:130966000-130966600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:130966000-130966800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:130966000-130966800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:130966000-130966800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:130966000-130966800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:130966000-130966800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:130966000-130967000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:130966200-130966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:130966200-130967000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:130966400-130966800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:130966400-130966800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:130966400-130966800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:130966600-130966800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:130966600-130966800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:130966600-130967000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:130966800-130973200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:130967000-130973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:130973000-130973600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:130973200-130973400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr4:130973400-130975000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:130974200-130975600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:130974200-130976400	Enhancers	HepG2	liver
33	chr4:130974400-130975200	Enhancers	Liver	Liver
34	chr4:130974400-130975600	Enhancers	Dnd41	blood
35	chr4:130974800-130975400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:130974800-130975600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:130975000-130975200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:130975200-130975600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:130975200-130977200	Weak transcription	Liver	Liver
40	chr4:130975600-130977200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:130976200-130976400	Enhancers	Fetal Kidney	kidney
42	chr4:130977200-130977400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr4:130977200-130977600	Enhancers	Liver	Liver
44	chr4:130988200-130990200	Enhancers	Liver	Liver
45	chr4:130988800-130989600	Enhancers	Stomach Mucosa	stomach
46	chr4:130988800-130989800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:130988800-130989800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:130989000-130989400	Enhancers	Fetal Intestine Large	intestine
49	chr4:130989000-130989600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:130989000-130990000	Enhancers	HUES48 Cell Line	embryonic stem cell

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