Variant report

Variant	esv3330604
Chromosome Location	chr4:91034129-91036077
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	chr4:91035478..91037583-chr4:91048337..91050956,3	MCF-7	breast:
2	chr4:91033577..91035509-chr4:91047169..91049548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184305	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560321395	chr4:91034199-91034200	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12512591	chr4:91034201-91034202	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376202739	chr4:91034238-91034239	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58617553	chr4:91034241-91034242	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146387137	chr4:91034258-91034259	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12512601	chr4:91034274-91034275	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138988566	chr4:91034310-91034311	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371343661	chr4:91034321-91034322	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111845345	chr4:91034355-91034356	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs57352504	chr4:91034415-91034416	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140442984	chr4:91034442-91034443	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533968373	chr4:91034459-91034460	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192103196	chr4:91034464-91034465	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573842615	chr4:91034502-91034503	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114302284	chr4:91034512-91034513	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573506310	chr4:91034534-91034535	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576622273	chr4:91034560-91034561	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184993719	chr4:91034630-91034631	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189274465	chr4:91034631-91034632	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371076134	chr4:91034692-91034693	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79004616	chr4:91034716-91034717	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150493124	chr4:91034757-91034758	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527296083	chr4:91034900-91034901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561294636	chr4:91034914-91034915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374162770	chr4:91034915-91034916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560288435	chr4:91034918-91034919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529003981	chr4:91034920-91034921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201969206	chr4:91034921-91034922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199774101	chr4:91034923-91034924	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147486644	chr4:91034925-91034926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200537842	chr4:91034926-91034927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201804785	chr4:91034928-91034929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555903015	chr4:91034931-91034932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200193202	chr4:91034932-91034933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373874430	chr4:91034947-91034948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368164971	chr4:91034954-91034955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374784769	chr4:91034957-91034958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531596352	chr4:91034971-91034972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368082178	chr4:91034973-91034974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369739183	chr4:91035004-91035005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542806558	chr4:91035010-91035011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13102693	chr4:91035017-91035018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13103067	chr4:91035018-91035019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373469171	chr4:91035019-91035020	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180928647	chr4:91035029-91035030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75280808	chr4:91035030-91035031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs59336046	chr4:91035043-91035044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570529511	chr4:91035044-91035045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571627398	chr4:91035046-91035047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs60304684	chr4:91035049-91035050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Multiple myeloma	17550852	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91034000-91034400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:91034000-91034800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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