Variant report

Variant	nsv1016598
Chromosome Location	chr4:147931134-148012064
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:147996508..147999039-chr4:148000264..148002855,2	K562	blood:
2	chr4:147946196..147949325-chr4:147949429..147951136,3	K562	blood:
3	chr4:147997064..147999039-chr4:148001355..148005540,3	K562	blood:
4	chr4:147939970..147940883-chr4:148787667..148788628,4	K562	blood:
5	chr4:147939977..147940938-chr4:148015247..148015842,2	MCF-7	breast:
6	chr4:147939974..147940929-chr4:148017718..148018845,5	MCF-7	breast:
7	chr4:147938835..147939664-chr4:148018151..148018826,2	MCF-7	breast:
8	chr4:147939981..147941106-chr4:148014945..148015994,5	MCF-7	breast:
9	chr4:147997064..147999039-chr4:148001355..148005540,3	K562	blood:
10	chr4:147939892..147940886-chr4:148017933..148018857,4	K562	blood:
11	chr4:147946922..147949325-chr4:147949441..147951136,2	K562	blood:
12	chr4:147940120..147940905-chr4:148014962..148015896,2	MCF-7	breast:
13	chr4:147946922..147949325-chr4:147949441..147951136,2	K562	blood:
14	chr4:147996508..147999039-chr4:148000264..148002855,2	K562	blood:
15	chr4:147946196..147949325-chr4:147949429..147951136,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POU4F2-5	chr4:147947073-147951224	NONHSAT098680

No data

Extended variants
information (count: 2722 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2722 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577248904	chr4:147931149-147931150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61336333	chr4:147931173-147931174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553158982	chr4:147931232-147931233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151201006	chr4:147931235-147931236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541915380	chr4:147931237-147931238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561668412	chr4:147931241-147931242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530504406	chr4:147931264-147931265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537449429	chr4:147931280-147931281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548442018	chr4:147931343-147931344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372465153	chr4:147931368-147931369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546909189	chr4:147931370-147931371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566689261	chr4:147931391-147931392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190037632	chr4:147931411-147931412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375490604	chr4:147931412-147931413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549435646	chr4:147931413-147931414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369889119	chr4:147931465-147931466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374387697	chr4:147931482-147931483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372125494	chr4:147931515-147931516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569296048	chr4:147931544-147931545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114607651	chr4:147931563-147931564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375494901	chr4:147931644-147931645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566551258	chr4:147931676-147931677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557824054	chr4:147931677-147931678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181699004	chr4:147931711-147931712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539717832	chr4:147931788-147931789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553322333	chr4:147931823-147931824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573061895	chr4:147931848-147931849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140261811	chr4:147931906-147931907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555440524	chr4:147932013-147932014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575286524	chr4:147932062-147932063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187116667	chr4:147932069-147932070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200912278	chr4:147932127-147932128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563881313	chr4:147932149-147932150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112034264	chr4:147932157-147932158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115832658	chr4:147932161-147932162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532778381	chr4:147932247-147932248	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116187837	chr4:147932278-147932279	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560439103	chr4:147932324-147932325	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529442670	chr4:147932330-147932331	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549351642	chr4:147932369-147932370	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575162088	chr4:147932377-147932378	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12512976	chr4:147932407-147932408	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531660322	chr4:147932421-147932422	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150325976	chr4:147932447-147932448	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557367537	chr4:147932448-147932449	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558633074	chr4:147932483-147932484	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377082872	chr4:147932622-147932623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371776739	chr4:147932638-147932639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189242657	chr4:147932669-147932670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79879935	chr4:147932681-147932682	Enhancers Weak transcription	n/a	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:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr4:147926000-147932200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:147926600-147932600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:147926800-147932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:147928200-147932200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:147930000-147932200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:147931000-147931200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:147931800-147933600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:147932000-147934400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:147932200-147932600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:147932200-147933000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:147932200-147933800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:147932200-147934400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:147932200-147934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:147932400-147934000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:147932600-147933200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:147932600-147933200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:147932600-147933400	Enhancers	Brain Germinal Matrix	brain
21	chr4:147932600-147933800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:147932600-147933800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:147932600-147937200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:147933000-147933400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:147933200-147933800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:147933200-147936400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:147933400-147934000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:147933400-147936200	Weak transcription	Brain Germinal Matrix	brain
29	chr4:147933800-147936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:147933800-147936400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:147933800-147936400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:147934000-147936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:147934400-147936000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:147934400-147936200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:147936000-147936800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:147936000-147937000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:147936000-147937200	Enhancers	NHDF-Ad	bronchial
38	chr4:147936200-147936400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:147936200-147936400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:147936200-147936400	Enhancers	Aorta	Aorta
41	chr4:147936200-147936600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:147936200-147936800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:147936200-147937000	Enhancers	Brain Germinal Matrix	brain
44	chr4:147936200-147937000	Enhancers	Fetal Lung	lung
45	chr4:147936200-147937000	Enhancers	Fetal Stomach	stomach
46	chr4:147936400-147936800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:147936400-147936800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:147936400-147936800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:147936400-147936800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:147936400-147936800	Enhancers	Cortex derived primary cultured neurospheres	brain

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