Variant report

Variant	esv3372452
Chromosome Location	chr4:148138902-148140150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182137032	chr4:148138945-148138946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537102631	chr4:148138978-148138979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532932052	chr4:148139048-148139049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556702422	chr4:148139097-148139098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576871149	chr4:148139257-148139258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373006766	chr4:148139264-148139265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560113911	chr4:148139446-148139447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537303612	chr4:148139460-148139461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186812870	chr4:148139671-148139672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17022825	chr4:148139678-148139679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1395816	chr4:148139689-148139690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562271139	chr4:148139698-148139699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191269570	chr4:148139784-148139785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551027891	chr4:148139827-148139828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200803663	chr4:148139835-148139836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560459068	chr4:148139860-148139861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564341015	chr4:148139862-148139863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144383112	chr4:148139875-148139876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546568081	chr4:148139885-148139886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370947143	chr4:148139899-148139900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565684691	chr4:148139928-148139929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183201892	chr4:148140011-148140012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548086256	chr4:148140048-148140049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146584866	chr4:148140061-148140062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536762303	chr4:148140106-148140107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558893399	chr4:148140113-148140114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576989020	chr4:148140127-148140128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539483617	chr4:148140139-148140140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563398560	chr4:148140150-148140151	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148138200-148139200	Enhancers	Adipose Nuclei	Adipose
2	chr4:148138200-148140800	Enhancers	Ovary	ovary
3	chr4:148138800-148141200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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