Variant report

Variant	esv3447135
Chromosome Location	chr4:132647802-132651000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568712232	chr4:132648201-132648202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs537279945	chr4:132648202-132648203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557123711	chr4:132648204-132648205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs3978147	chr4:132648211-132648212	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574367813	chr4:132648221-132648222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77605262	chr4:132648226-132648227	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553513758	chr4:132648236-132648237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373348918	chr4:132648243-132648244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2863574	chr4:132648259-132648260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs3978148	chr4:132648261-132648262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs3978149	chr4:132648270-132648271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369812578	chr4:132648284-132648285	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576575568	chr4:132648285-132648286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539148584	chr4:132648299-132648300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62317448	chr4:132648300-132648301	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs3978150	chr4:132648304-132648305	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs3978126	chr4:132648307-132648308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562836931	chr4:132648312-132648313	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs3978127	chr4:132648318-132648319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs542223602	chr4:132648331-132648332	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562087419	chr4:132648338-132648339	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372642570	chr4:132648339-132648340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189324380	chr4:132648348-132648349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548119222	chr4:132648366-132648367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs193234743	chr4:132648373-132648374	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs3978128	chr4:132648374-132648375	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs62317450	chr4:132648392-132648393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564657212	chr4:132648424-132648425	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533361774	chr4:132648445-132648446	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550392325	chr4:132648497-132648498	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568845306	chr4:132648511-132648512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370058793	chr4:132648534-132648535	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374792763	chr4:132648550-132648551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537575890	chr4:132648564-132648565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs190114911	chr4:132648575-132648576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567730983	chr4:132648576-132648577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533793675	chr4:132648578-132648579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553653169	chr4:132648584-132648585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577114967	chr4:132648588-132648589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539245633	chr4:132648606-132648607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79944071	chr4:132648608-132648609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371027682	chr4:132648609-132648610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576431632	chr4:132648620-132648621	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs575488949	chr4:132648623-132648624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375571295	chr4:132648628-132648629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542360443	chr4:132648631-132648632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147093572	chr4:132648646-132648647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181675128	chr4:132648650-132648651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs185524841	chr4:132648652-132648653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs76809912	chr4:132648659-132648660	Active TSS	n/a	n/a	Overlapped CNVs	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
Autism	19492091	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132648200-132649200	Active TSS	HMEC	breast
2	chr4:132650400-132650600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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