Variant report

Variant	nsv461676
Chromosome Location	chr4:147927227-147962432
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:147939974..147940929-chr4:148017718..148018845,5	MCF-7	breast:
2	chr4:147939970..147940883-chr4:148787667..148788628,4	K562	blood:
3	chr4:147939977..147940938-chr4:148015247..148015842,2	MCF-7	breast:
4	chr4:147946196..147949325-chr4:147949429..147951136,3	K562	blood:
5	chr4:147946922..147949325-chr4:147949441..147951136,2	K562	blood:
6	chr4:147940120..147940905-chr4:148014962..148015896,2	MCF-7	breast:
7	chr4:147939892..147940886-chr4:148017933..148018857,4	K562	blood:
8	chr4:147946922..147949325-chr4:147949441..147951136,2	K562	blood:
9	chr4:147939981..147941106-chr4:148014945..148015994,5	MCF-7	breast:
10	chr4:147938835..147939664-chr4:148018151..148018826,2	MCF-7	breast:
11	chr4:147946196..147949325-chr4:147949429..147951136,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POU4F2-4	chr4:147926644-147930297	ENSG00000260090.1
2	lnc-POU4F2-5	chr4:147947073-147951224	NONHSAT098680

No data

Extended variants
information (count: 1146 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1146 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12498817	chr4:147927227-147927228	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371957764	chr4:147927250-147927251	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs4328934	chr4:147927279-147927280	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189084582	chr4:147927292-147927293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs189527338	chr4:147927309-147927310	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs971805	chr4:147927315-147927316	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs550876184	chr4:147927328-147927329	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs533771409	chr4:147927359-147927360	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs28698911	chr4:147927367-147927368	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550480089	chr4:147927378-147927379	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs569212535	chr4:147927384-147927385	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs535837158	chr4:147927408-147927409	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs555849230	chr4:147927425-147927426	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs575994500	chr4:147927474-147927475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs545348563	chr4:147927523-147927524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs144818527	chr4:147927537-147927538	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs374890439	chr4:147927548-147927549	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs571883726	chr4:147927569-147927570	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs182349951	chr4:147927598-147927599	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs145556446	chr4:147927716-147927717	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs117615189	chr4:147927769-147927770	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs561358244	chr4:147927785-147927786	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs112863488	chr4:147927808-147927809	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs530176754	chr4:147927814-147927815	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs386680551	chr4:147927880-147927881	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs80206459	chr4:147927944-147927945	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs58289064	chr4:147927953-147927954	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186969657	chr4:147928047-147928048	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs554521337	chr4:147928077-147928078	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs62329400	chr4:147928220-147928221	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs75159585	chr4:147928314-147928315	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs185196267	chr4:147928350-147928351	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs188239575	chr4:147928387-147928388	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs528758333	chr4:147928418-147928419	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs370418189	chr4:147928428-147928429	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs148857253	chr4:147928439-147928440	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs552376463	chr4:147928440-147928441	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs533737335	chr4:147928452-147928453	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs193164878	chr4:147928461-147928462	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368613288	chr4:147928486-147928487	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs185382906	chr4:147928534-147928535	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567136747	chr4:147928576-147928577	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs115366314	chr4:147928581-147928582	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs75739049	chr4:147928589-147928590	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs189644857	chr4:147928598-147928599	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs535075493	chr4:147928603-147928604	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs180853132	chr4:147928622-147928623	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs183926982	chr4:147928651-147928652	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs572815762	chr4:147928664-147928665	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs534046326	chr4:147928700-147928701	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147925800-147932600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:147925800-147932600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:147925800-147936600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:147926000-147927800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:147926000-147932200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:147926600-147932600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:147926800-147932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:147927800-147928200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:147927800-147930000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:147928200-147932200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:147930000-147932200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:147931000-147931200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:147931800-147933600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:147932000-147934400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:147932200-147932600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:147932200-147933000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:147932200-147933800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:147932200-147934400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:147932200-147934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:147932400-147934000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:147932600-147933200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr4:147932600-147933200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:147932600-147933400	Enhancers	Brain Germinal Matrix	brain
24	chr4:147932600-147933800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:147932600-147933800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:147932600-147937200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:147933000-147933400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr4:147933200-147933800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:147933200-147936400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:147933400-147934000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:147933400-147936200	Weak transcription	Brain Germinal Matrix	brain
32	chr4:147933800-147936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:147933800-147936400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:147933800-147936400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:147934000-147936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:147934400-147936000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:147934400-147936200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:147936000-147936800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:147936000-147937000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:147936000-147937200	Enhancers	NHDF-Ad	bronchial
41	chr4:147936200-147936400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:147936200-147936400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:147936200-147936400	Enhancers	Aorta	Aorta
44	chr4:147936200-147936600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:147936200-147936800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:147936200-147937000	Enhancers	Brain Germinal Matrix	brain
47	chr4:147936200-147937000	Enhancers	Fetal Lung	lung
48	chr4:147936200-147937000	Enhancers	Fetal Stomach	stomach
49	chr4:147936400-147936800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:147936400-147936800	Enhancers	HUES6 Cell Line	embryonic stem cell

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