Variant report

Variant	esv1814822
Chromosome Location	chr4:132479903-132493441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 301 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182307826	chr4:132484433-132484434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148101100	chr4:132484435-132484436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552460340	chr4:132484453-132484454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562831397	chr4:132484514-132484515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143998620	chr4:132484518-132484519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550139331	chr4:132484541-132484542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187679493	chr4:132484582-132484583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs350958	chr4:132484583-132484584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546348318	chr4:132484614-132484615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566660313	chr4:132484654-132484655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192590426	chr4:132484656-132484657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182743022	chr4:132484667-132484668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575590030	chr4:132484681-132484682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370465875	chr4:132484694-132484695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538936589	chr4:132484820-132484821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567448261	chr4:132484824-132484825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538279320	chr4:132484837-132484838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554964358	chr4:132484854-132484855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574714135	chr4:132484861-132484862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147289265	chr4:132484898-132484899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553842721	chr4:132484916-132484917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560345986	chr4:132484955-132484956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141042629	chr4:132484979-132484980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545983886	chr4:132484991-132484992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562870987	chr4:132485006-132485007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531868589	chr4:132485007-132485008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs41366745	chr4:132485013-132485014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188390235	chr4:132485043-132485044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529610535	chr4:132485057-132485058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546682174	chr4:132485100-132485101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13150654	chr4:132485126-132485127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377028072	chr4:132485170-132485171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556407681	chr4:132485184-132485185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193201933	chr4:132485213-132485214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552388671	chr4:132485214-132485215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569042690	chr4:132485220-132485221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538160237	chr4:132485223-132485224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554520994	chr4:132485259-132485260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116041031	chr4:132485265-132485266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574786242	chr4:132485267-132485268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13126704	chr4:132485326-132485327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372269122	chr4:132485332-132485333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184717794	chr4:132485364-132485365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576904925	chr4:132485389-132485390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189988027	chr4:132485397-132485398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192242270	chr4:132485444-132485445	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556350854	chr4:132485479-132485480	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs201152198	chr4:132485513-132485514	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs183882301	chr4:132485543-132485544	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs350959	chr4:132485551-132485552	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
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
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
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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132484400-132487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:132485400-132486000	Active TSS	Fetal Heart	heart
3	chr4:132487000-132487800	Enhancers	HMEC	breast
4	chr4:132487000-132488000	Enhancers	NHEK	skin
5	chr4:132487200-132487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:132487400-132487800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:132487400-132488000	Enhancers	Pancreas	Pancrea
8	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:132488000-132488400	Weak transcription	Pancreas	Pancrea
10	chr4:132488400-132488800	Enhancers	Pancreas	Pancrea

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