Variant report

Variant	esv2763826
Chromosome Location	chr4:132573036-132615388
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	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:

Extended variants
information (count: 243 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545215331	chr4:132579450-132579451	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182713486	chr4:132579491-132579492	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186729646	chr4:132579594-132579595	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555013848	chr4:132579596-132579597	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568431509	chr4:132579609-132579610	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534056237	chr4:132579631-132579632	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370711666	chr4:132579634-132579635	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564927013	chr4:132579635-132579636	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374628891	chr4:132579654-132579655	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192046286	chr4:132579661-132579662	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs4094289	chr4:132579679-132579680	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4094288	chr4:132579703-132579704	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533507088	chr4:132579705-132579706	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4094287	chr4:132579711-132579712	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556484912	chr4:132579741-132579742	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576329329	chr4:132579775-132579776	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542075657	chr4:132579866-132579867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115024726	chr4:132579928-132579929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368675339	chr4:132579946-132579947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28380688	chr4:132580009-132580010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539990153	chr4:132580035-132580036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560186154	chr4:132580080-132580081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546787798	chr4:132580102-132580103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200724853	chr4:132591608-132591609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182933488	chr4:132591620-132591621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77468811	chr4:132591704-132591705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186856224	chr4:132591712-132591713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550551250	chr4:132591747-132591748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199862922	chr4:132591796-132591797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529898356	chr4:132591808-132591809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6826057	chr4:132591816-132591817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560466811	chr4:132591864-132591865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149349075	chr4:132591881-132591882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201907230	chr4:132591899-132591900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111896120	chr4:132591956-132591957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372431914	chr4:132591958-132591959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539220211	chr4:132591975-132591976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559026785	chr4:132591979-132591980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192921267	chr4:132591980-132591981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28550781	chr4:132591989-132591990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190457984	chr4:132601601-132601602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370730740	chr4:132601665-132601666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570533540	chr4:132601690-132601691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs376315412	chr4:132601691-132601692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532852110	chr4:132601693-132601694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6858369	chr4:132601698-132601699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377515760	chr4:132601701-132601702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569490828	chr4:132601786-132601787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs535393113	chr4:132601797-132601798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112377039	chr4:132601818-132601819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132579400-132579800	Flanking Active TSS	Dnd41	blood
2	chr4:132579800-132580200	Enhancers	Dnd41	blood
3	chr4:132591600-132592000	Enhancers	HMEC	breast
4	chr4:132601600-132602000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:132602000-132604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:132604800-132605200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:132605000-132605200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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