Variant report

Variant	nsv528410
Chromosome Location	chr4:81402774-81411380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 276 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1039053	chr4:81402774-81402775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143407147	chr4:81402775-81402776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180789151	chr4:81402785-81402786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1039052	chr4:81402814-81402815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145576397	chr4:81402868-81402869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148867418	chr4:81403109-81403110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550111614	chr4:81403121-81403122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143502926	chr4:81403126-81403127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552328086	chr4:81403128-81403129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569096685	chr4:81403137-81403138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563834457	chr4:81403245-81403246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537511563	chr4:81403276-81403277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557501909	chr4:81403385-81403386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574038480	chr4:81403395-81403396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529547009	chr4:81403443-81403444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536635523	chr4:81403474-81403475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553125605	chr4:81403503-81403504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573458794	chr4:81403538-81403539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545397675	chr4:81403556-81403557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150945230	chr4:81403566-81403567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553799281	chr4:81403649-81403650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1495484	chr4:81403674-81403675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs566305982	chr4:81403691-81403692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560646437	chr4:81403875-81403876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186708283	chr4:81403915-81403916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1027397	chr4:81403916-81403917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190209135	chr4:81403919-81403920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183206672	chr4:81403935-81403936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187373364	chr4:81403936-81403937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569034668	chr4:81403983-81403984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1994981	chr4:81403998-81403999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548442661	chr4:81404049-81404050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567744647	chr4:81404109-81404110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536664867	chr4:81404120-81404121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191080407	chr4:81404173-81404174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373562773	chr4:81404182-81404183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35557259	chr4:81404216-81404217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553300686	chr4:81404285-81404286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115852295	chr4:81404336-81404337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539278432	chr4:81404345-81404346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1027396	chr4:81404374-81404375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575578494	chr4:81404406-81404407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544392337	chr4:81404409-81404410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183926003	chr4:81404463-81404464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533560343	chr4:81404468-81404469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117493847	chr4:81404497-81404498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13120118	chr4:81404503-81404504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188681337	chr4:81404521-81404522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76196151	chr4:81404527-81404528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3037375	chr4:81404543-81404544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81397400-81406000	Weak transcription	Osteobl	bone
2	chr4:81406000-81406200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:81406000-81406200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:81406000-81406200	Enhancers	Osteobl	bone
5	chr4:81406200-81407400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:81406200-81407600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:81406200-81412600	Weak transcription	Osteobl	bone
8	chr4:81407200-81407400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:81407200-81407600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:81407200-81408600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:81407400-81407600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:81407400-81407800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:81407400-81407800	Active TSS	Aorta	Aorta
14	chr4:81407400-81409000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:81407600-81407800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:81407600-81408800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:81407600-81408800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:81407600-81421800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:81407800-81408000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:81407800-81408200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:81408000-81408200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:81408000-81408600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:81408000-81408800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:81408000-81408800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:81408000-81410800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:81408200-81409000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:81408600-81412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:81410400-81411600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:81410600-81410800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:81410600-81411200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:81410600-81411400	Enhancers	Primary B cells from peripheral blood	blood
32	chr4:81410600-81411600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr4:81410600-81411800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:81410600-81411800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:81410800-81411400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:81411000-81411400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr4:81411000-81411400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:81411000-81411400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:81411000-81411400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:81411000-81411600	Enhancers	Primary T cells from cord blood	blood
41	chr4:81411000-81411600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr4:81411000-81416600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:81411200-81411400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:81411200-81411400	Enhancers	GM12878-XiMat	blood
45	chr4:81411200-81412000	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links