Variant report

Variant	nsv964073
Chromosome Location	chr4:95113269-95119152
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	CEBPB	chr4:95114248-95114398	HepG2	liver:	n/a	chr4:95114315-95114326
2	FOS	chr4:95115902-95115984	HUVEC	blood vessel:	n/a	n/a
3	SRF	chr4:95115541-95115652	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95118862..95120725-chr4:95127872..95129786,2	K562	blood:
2	chr4:95112105..95114691-chr4:95116145..95118228,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPGDS-3	chr4:95117091-95117664	NONHSAT097442

Variant related genes	Relation type
HMGB3P15	TF binding region
ENSG00000250897	chromatin interactions
ENSG00000246541	chromatin interactions
ENSG00000163104	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577236200	chr4:95113272-95113273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187170393	chr4:95113277-95113278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142898601	chr4:95113362-95113363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538436700	chr4:95113371-95113372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs58685997	chr4:95113373-95113374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562403669	chr4:95113374-95113375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115420993	chr4:95113404-95113405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551112102	chr4:95113425-95113426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570972349	chr4:95113454-95113455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372515013	chr4:95113477-95113478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190391389	chr4:95113499-95113500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566262120	chr4:95113524-95113525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs202032557	chr4:95113775-95113776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545982895	chr4:95113785-95113786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549644490	chr4:95113826-95113827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376798973	chr4:95113861-95113862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569094999	chr4:95113875-95113876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181667632	chr4:95113876-95113877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77813679	chr4:95113878-95113879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139475395	chr4:95113892-95113893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2171380	chr4:95113898-95113899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540468172	chr4:95113937-95113938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111846165	chr4:95113948-95113949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572414203	chr4:95114010-95114011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34395131	chr4:95114053-95114054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112341802	chr4:95114059-95114060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369858416	chr4:95114109-95114110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372506624	chr4:95114152-95114153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542199570	chr4:95114164-95114165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561946518	chr4:95114188-95114189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190124480	chr4:95114208-95114209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143496916	chr4:95114229-95114230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557757901	chr4:95114243-95114244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564828837	chr4:95114379-95114380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs17374832	chr4:95114394-95114395	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535211025	chr4:95114429-95114430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115018276	chr4:95114453-95114454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77545929	chr4:95114469-95114470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528956700	chr4:95114551-95114552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548930648	chr4:95114561-95114562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28408270	chr4:95114572-95114573	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140304672	chr4:95114613-95114614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs56348642	chr4:95114627-95114628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78698722	chr4:95114628-95114629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199987530	chr4:95114631-95114632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200799065	chr4:95114632-95114633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555222981	chr4:95114680-95114681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567490393	chr4:95115609-95115610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536474063	chr4:95115615-95115616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151090333	chr4:95115658-95115659	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95115600-95115800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:95117600-95117800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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