Variant report

Variant	nsv967777
Chromosome Location	chr4:100909755-100913192
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	chr4:100909970-100910054	HepG2	liver:	n/a	n/a
2	E2F4	chr4:100912842-100912883	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr4:100909844-100909886	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr4:100912846-100913227	GM12878	blood:	n/a	chr4:100913054-100913065 chr4:100913053-100913066
5	SPI1	chr4:100912451-100912617	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100869894..100871447-chr4:100910758..100913096,2	K562	blood:
2	chr4:100910888..100913568-chr4:100928620..100930251,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250403	TF binding region
ENSG00000164032	chromatin interactions
ENSG00000245322	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36107954	chr4:100910773-100910774	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34941219	chr4:100910774-100910775	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs57338233	chr4:100910775-100910776	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554568888	chr4:100910873-100910874	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572815109	chr4:100910933-100910934	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533892685	chr4:100910949-100910950	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192691420	chr4:100910954-100910955	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576902341	chr4:100911007-100911008	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183818196	chr4:100911024-100911025	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553808655	chr4:100911071-100911072	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544456512	chr4:100911075-100911076	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35482926	chr4:100911086-100911087	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188206708	chr4:100911090-100911091	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545959684	chr4:100911102-100911103	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs75368302	chr4:100911106-100911107	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs78930786	chr4:100911107-100911108	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368286722	chr4:100911110-100911111	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs398083337	chr4:100911116-100911117	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116410948	chr4:100911133-100911134	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs6532837	chr4:100911136-100911137	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192505542	chr4:100911188-100911189	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184596575	chr4:100911233-100911234	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs542967029	chr4:100911251-100911252	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150517618	chr4:100911275-100911276	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369312481	chr4:100911282-100911283	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs55852037	chr4:100911301-100911302	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188218297	chr4:100911310-100911311	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116282546	chr4:100911371-100911372	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111773046	chr4:100911372-100911373	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566461476	chr4:100911381-100911382	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533592978	chr4:100911425-100911426	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs115075272	chr4:100911447-100911448	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12507823	chr4:100911471-100911472	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190035419	chr4:100911501-100911502	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560937217	chr4:100911538-100911539	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556411898	chr4:100911545-100911546	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139403032	chr4:100911565-100911566	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542109050	chr4:100911595-100911596	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553826281	chr4:100911634-100911635	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs573179023	chr4:100911640-100911641	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540300578	chr4:100911669-100911670	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs181252112	chr4:100911689-100911690	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs61229555	chr4:100911693-100911694	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs58829276	chr4:100911731-100911732	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562751795	chr4:100911737-100911738	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535494095	chr4:100911742-100911743	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530279258	chr4:100911750-100911751	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188897502	chr4:100911751-100911752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115824165	chr4:100911801-100911802	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181961240	chr4:100911827-100911828	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Autism	18414403	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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100913000-100913400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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