Variant report

Variant	esv2759230
Chromosome Location	chr4:21172465-21180995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145267773	chr4:21175229-21175230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543088614	chr4:21175312-21175313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79162938	chr4:21175315-21175316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565759353	chr4:21175316-21175317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528627870	chr4:21175343-21175344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547140324	chr4:21175383-21175384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17513440	chr4:21175390-21175391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550946991	chr4:21175409-21175410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570381052	chr4:21175419-21175420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185354673	chr4:21175481-21175482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190064445	chr4:21175496-21175497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545727138	chr4:21175514-21175515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147212377	chr4:21175542-21175543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533612922	chr4:21175548-21175549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2162080	chr4:21175571-21175572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201173680	chr4:21175574-21175575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10516374	chr4:21175619-21175620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs73247383	chr4:21175633-21175634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556178575	chr4:21175641-21175642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4696972	chr4:21175653-21175654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543025143	chr4:21175662-21175663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561240621	chr4:21175680-21175681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76110377	chr4:21175698-21175699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540692182	chr4:21175740-21175741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565383269	chr4:21175757-21175758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370737237	chr4:21175778-21175779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140642308	chr4:21175780-21175781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551929086	chr4:21175798-21175799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551196755	chr4:21175842-21175843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34141805	chr4:21175844-21175845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569434030	chr4:21175882-21175883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182758515	chr4:21175909-21175910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114530939	chr4:21175937-21175938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548492241	chr4:21175941-21175942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566096278	chr4:21175992-21175993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542063492	chr4:21177000-21177001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560402172	chr4:21177007-21177008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77070331	chr4:21177034-21177035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112551009	chr4:21177048-21177049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189007097	chr4:21177074-21177075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564297933	chr4:21177076-21177077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114857302	chr4:21177146-21177147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564077586	chr4:21177219-21177220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146873687	chr4:21177233-21177234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1346050	chr4:21177255-21177256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs548096434	chr4:21177261-21177262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28691096	chr4:21177267-21177268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547646516	chr4:21177334-21177335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565958106	chr4:21177353-21177354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28459701	chr4:21177369-21177370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Cancer	22183965	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21175200-21175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21175200-21176000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:21177000-21179200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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