Variant report

Variant	nsv966327
Chromosome Location	chr4:148346351-148351227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr4:148349630-148349964	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr4:148349638-148350093	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr4:148349630-148350111	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:148349642-148350066	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:148349649-148350098	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr4:148349995-148350004	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr4:148349706-148349879	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr4:148350499-148350528	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:148349632-148349641	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:148347653-148347713	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000241281	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2059907	chr4:148347665-148347666	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573720508	chr4:148347701-148347702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2059908	chr4:148347706-148347707	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13133409	chr4:148347861-148347862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs386680583	chr4:148347870-148347871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13115345	chr4:148347872-148347873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs199955351	chr4:148347876-148347877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536304721	chr4:148347953-148347954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370378168	chr4:148347955-148347956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13138606	chr4:148347971-148347972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs13140151	chr4:148347993-148347994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540331648	chr4:148348005-148348006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540952497	chr4:148348007-148348008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117822013	chr4:148348072-148348073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528910489	chr4:148348095-148348096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4362803	chr4:148348109-148348110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563223778	chr4:148348110-148348111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368723157	chr4:148348133-148348134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75962490	chr4:148348194-148348195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371533431	chr4:148348210-148348211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577602144	chr4:148348234-148348235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2884270	chr4:148348261-148348262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2357780	chr4:148348301-148348302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539372909	chr4:148348398-148348399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527858599	chr4:148348404-148348405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547503107	chr4:148348410-148348411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367810484	chr4:148348432-148348433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567404741	chr4:148348465-148348466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372027447	chr4:148348507-148348508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71594211	chr4:148348556-148348557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536274842	chr4:148348577-148348578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3064541	chr4:148348578-148348579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75383678	chr4:148348579-148348580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2884271	chr4:148348584-148348585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569174022	chr4:148348614-148348615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537756925	chr4:148348646-148348647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34429650	chr4:148348680-148348681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577781175	chr4:148348706-148348707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34273504	chr4:148348727-148348728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10019644	chr4:148348749-148348750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553938481	chr4:148348760-148348761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573779705	chr4:148348767-148348768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561481630	chr4:148348852-148348853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191114366	chr4:148348856-148348857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11732075	chr4:148348868-148348869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531290726	chr4:148348895-148348896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545400047	chr4:148348896-148348897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34780385	chr4:148348905-148348906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs398108111	chr4:148348913-148348914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111694851	chr4:148348944-148348945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148347800-148348400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:148348000-148348400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:148348000-148348400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:148348200-148349400	Enhancers	NHEK	skin
5	chr4:148348400-148349600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:148349600-148349800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:148350400-148350600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:148350600-148354400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:148351000-148351600	Enhancers	Ovary	ovary

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