Variant report

Variant	esv2439236
Chromosome Location	chr4:45236824-45238301
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	chr4:45232221..45234361-chr4:45236551..45238886,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559838096	chr4:45236832-45236833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375368704	chr4:45236841-45236842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549577123	chr4:45236859-45236860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185976242	chr4:45236862-45236863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552856755	chr4:45236866-45236867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139682279	chr4:45236867-45236868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563922100	chr4:45236870-45236871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569417398	chr4:45236881-45236882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs531366114	chr4:45236893-45236894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549683698	chr4:45236905-45236906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149778376	chr4:45236986-45236987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577918042	chr4:45237012-45237013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs75548898	chr4:45237034-45237035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544966877	chr4:45237044-45237045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556954667	chr4:45237086-45237087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147948399	chr4:45237108-45237109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs141867702	chr4:45237113-45237114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs558424911	chr4:45237136-45237137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74340460	chr4:45237145-45237146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537613568	chr4:45237231-45237232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190691388	chr4:45237274-45237275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377360884	chr4:45237311-45237312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs367919254	chr4:45237312-45237313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181196389	chr4:45237315-45237316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79585063	chr4:45237339-45237340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553068655	chr4:45237351-45237352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560271068	chr4:45237406-45237407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147076235	chr4:45237412-45237413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62409649	chr4:45237475-45237476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147718866	chr4:45237487-45237488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563410390	chr4:45237488-45237489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531402367	chr4:45237527-45237528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376070865	chr4:45237532-45237533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115508319	chr4:45237564-45237565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562058449	chr4:45237607-45237608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529172799	chr4:45237617-45237618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575111717	chr4:45237640-45237641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547399799	chr4:45237692-45237693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114559300	chr4:45237695-45237696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78277267	chr4:45237705-45237706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28792783	chr4:45237757-45237758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1604151	chr4:45237764-45237765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547956741	chr4:45237876-45237877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28877922	chr4:45237880-45237881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs348542	chr4:45237902-45237903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142580821	chr4:45237932-45237933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116807148	chr4:45237934-45237935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112159881	chr4:45237939-45237940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565333210	chr4:45237944-45237945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116826794	chr4:45237952-45237953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45236800-45237600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:45237600-45243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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