Variant report

Variant	nsv820232
Chromosome Location	chr4:110882124-110883098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110875646..110878215-chr4:110881372..110883545,2	K562	blood:
2	chr4:110736083..110738603-chr4:110880229..110882607,2	K562	blood:

Variant related genes	Relation type
ENSG00000109534	chromatin interactions
ENSG00000272795	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369702571	chr4:110882136-110882137	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147634717	chr4:110882137-110882138	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201098711	chr4:110882143-110882144	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142198895	chr4:110882145-110882146	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370503809	chr4:110882156-110882157	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531540692	chr4:110882212-110882213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191362395	chr4:110882236-110882237	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561912968	chr4:110882281-110882282	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548374854	chr4:110882284-110882285	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76261563	chr4:110882349-110882350	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570726169	chr4:110882354-110882355	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527430785	chr4:110882358-110882359	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547448579	chr4:110882382-110882383	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570376073	chr4:110882428-110882429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs9307347	chr4:110882460-110882461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11568938	chr4:110882465-110882466	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4698801	chr4:110882476-110882477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141507541	chr4:110882532-110882533	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567003179	chr4:110882535-110882536	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568298619	chr4:110882581-110882582	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568621068	chr4:110882589-110882590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs9992755	chr4:110882590-110882591	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs373720915	chr4:110882666-110882667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557117963	chr4:110882706-110882707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577180292	chr4:110882712-110882713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546176015	chr4:110882726-110882727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376815888	chr4:110882768-110882769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574901817	chr4:110882805-110882806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575099185	chr4:110882887-110882888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576446955	chr4:110882909-110882910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11568939	chr4:110882959-110882960	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11568940	chr4:110882960-110882961	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572178484	chr4:110882965-110882966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560720832	chr4:110882966-110882967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112916140	chr4:110882971-110882972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11568941	chr4:110882980-110882981	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs200103799	chr4:110882991-110882992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11568942	chr4:110882996-110882997	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373046487	chr4:110883009-110883010	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377385617	chr4:110883037-110883038	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371439656	chr4:110883073-110883074	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375461228	chr4:110883082-110883083	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368476089	chr4:110883087-110883088	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110869600-110888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:110872000-110883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:110872000-110885200	Weak transcription	Left Ventricle	heart
5	chr4:110874400-110889000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
7	chr4:110879400-110883000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:110880200-110883600	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:110883000-110883400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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