Variant report

Variant	nsv293162
Chromosome Location	chr4:148628710-148631612
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:148616867..148618496-chr4:148626257..148629156,2	MCF-7	breast:
2	chr4:148629077..148630062-chr4:148758176..148759184,8	MCF-7	breast:
3	chr4:148629316..148630008-chr4:148760331..148760891,2	MCF-7	breast:
4	chr4:148629250..148629859-chr4:148787588..148788271,2	K562	blood:
5	chr4:148629398..148629956-chr4:148758339..148759290,3	MCF-7	breast:
6	chr4:148629212..148629987-chr4:148742603..148743764,4	MCF-7	breast:
7	chr4:148628378..148630020-chr4:148787161..148788732,34	MCF-7	breast:
8	chr4:148628975..148629992-chr4:148787437..148788720,7	MCF-7	breast:

No data

Extended variants
information (count: 98 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200170766	chr4:148628710-148628711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13138767	chr4:148628713-148628714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531120952	chr4:148628714-148628715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184418495	chr4:148628715-148628716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13139295	chr4:148628716-148628717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368517885	chr4:148628722-148628723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13138943	chr4:148628726-148628727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13138948	chr4:148628738-148628739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13138949	chr4:148628739-148628740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566158343	chr4:148628753-148628754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189128365	chr4:148628848-148628849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182328243	chr4:148628892-148628893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535461868	chr4:148628913-148628914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551338107	chr4:148628926-148628927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540213173	chr4:148628937-148628938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575034107	chr4:148628966-148628967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537604478	chr4:148628986-148628987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112698688	chr4:148629031-148629032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35587764	chr4:148629282-148629283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34586660	chr4:148629287-148629288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558904841	chr4:148629353-148629354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75416019	chr4:148629448-148629449	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs74492146	chr4:148629453-148629454	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560428346	chr4:148629465-148629466	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573142944	chr4:148629470-148629471	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542286840	chr4:148629546-148629547	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs9884488	chr4:148629603-148629604	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531028042	chr4:148629709-148629710	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs143167765	chr4:148629728-148629729	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564538312	chr4:148629750-148629751	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs533645444	chr4:148629757-148629758	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114510736	chr4:148629784-148629785	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567186689	chr4:148629786-148629787	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs145566407	chr4:148629795-148629796	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577394413	chr4:148629796-148629797	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs559462555	chr4:148629800-148629801	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528848142	chr4:148629924-148629925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28578035	chr4:148629971-148629972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569734137	chr4:148630095-148630096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142822018	chr4:148630103-148630104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537564931	chr4:148630118-148630119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557907556	chr4:148630200-148630201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571332278	chr4:148630211-148630212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77115517	chr4:148630234-148630235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577302926	chr4:148630292-148630293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553775384	chr4:148630296-148630297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574500184	chr4:148630341-148630342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573927545	chr4:148630349-148630350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185673615	chr4:148630353-148630354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189453590	chr4:148630453-148630454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148626000-148629200	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:148627000-148630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:148627000-148634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:148629000-148629200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:148629000-148629400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:148629000-148629400	Enhancers	GM12878-XiMat	blood
7	chr4:148629000-148629600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:148629000-148631400	Enhancers	Placenta	Placenta
9	chr4:148629200-148629400	Enhancers	Colon Smooth Muscle	Colon
10	chr4:148629200-148629400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr4:148629200-148630200	Enhancers	HMEC	breast
12	chr4:148629200-148630400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:148629400-148629600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:148629400-148629600	Active TSS	Stomach Smooth Muscle	stomach
15	chr4:148629400-148629800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:148629400-148629800	Enhancers	Adipose Nuclei	Adipose
17	chr4:148629400-148629800	Active TSS	Brain Hippocampus Middle	brain
18	chr4:148629400-148629800	Active TSS	Colon Smooth Muscle	Colon
19	chr4:148629400-148629800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:148629400-148629800	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr4:148629400-148629800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr4:148629400-148629800	Enhancers	NHLF	lung
23	chr4:148629400-148631000	Weak transcription	GM12878-XiMat	blood
24	chr4:148629400-148634600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:148629600-148629800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:148629600-148629800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:148629600-148629800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:148629600-148629800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr4:148629600-148629800	Enhancers	NHDF-Ad	bronchial
30	chr4:148629600-148629800	Flanking Active TSS	Osteobl	bone
31	chr4:148629600-148630000	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:148629800-148630000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:148629800-148630200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:148629800-148633800	Weak transcription	Adipose Nuclei	Adipose
35	chr4:148629800-148634400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:148629800-148635000	Weak transcription	NHDF-Ad	bronchial
37	chr4:148629800-148635000	Weak transcription	NHLF	lung
38	chr4:148629800-148635600	Weak transcription	Osteobl	bone
39	chr4:148630000-148630600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:148630000-148634600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:148630200-148635400	Weak transcription	HMEC	breast
42	chr4:148630400-148630600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:148630400-148631400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:148630600-148630800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:148630600-148630800	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:148630600-148631200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:148630800-148636200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:148631000-148631400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr4:148631000-148631400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:148631000-148631400	Enhancers	GM12878-XiMat	blood

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