Variant report

Variant	esv3445244
Chromosome Location	chr4:20406879-20409727
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	chr4:20402146..20406160-chr4:20406620..20409164,3	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572136141	chr4:20406922-20406923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146619478	chr4:20407021-20407022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568731462	chr4:20407041-20407042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564125501	chr4:20407052-20407053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147057523	chr4:20407075-20407076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184017998	chr4:20407076-20407077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531515699	chr4:20407136-20407137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141420953	chr4:20407155-20407156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76780544	chr4:20407261-20407262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561691216	chr4:20407294-20407295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149851927	chr4:20407397-20407398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547757931	chr4:20407418-20407419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527560409	chr4:20407437-20407438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373402005	chr4:20407465-20407466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571136811	chr4:20407466-20407467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188917402	chr4:20407497-20407498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144870337	chr4:20407546-20407547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191199509	chr4:20407554-20407555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567337708	chr4:20407641-20407642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537169883	chr4:20407648-20407649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149036781	chr4:20407662-20407663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143063729	chr4:20407780-20407781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538003120	chr4:20407788-20407789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138709783	chr4:20407872-20407873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78021449	chr4:20407896-20407897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533733120	chr4:20407932-20407933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183688421	chr4:20407935-20407936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112690981	chr4:20407983-20407984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76304501	chr4:20407990-20407991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138117862	chr4:20408035-20408036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10017664	chr4:20408074-20408075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369526246	chr4:20408136-20408137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112522165	chr4:20408153-20408154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111655096	chr4:20408167-20408168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541070040	chr4:20408192-20408193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559753579	chr4:20408197-20408198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533692939	chr4:20408234-20408235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568518681	chr4:20408295-20408296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186879040	chr4:20408334-20408335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531041296	chr4:20408346-20408347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191717112	chr4:20408371-20408372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67927265	chr4:20408386-20408387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528427090	chr4:20408417-20408418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10006234	chr4:20408421-20408422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143690443	chr4:20408514-20408515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142209874	chr4:20408563-20408564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57411082	chr4:20408564-20408565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67411562	chr4:20408565-20408566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184984370	chr4:20408590-20408591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558115142	chr4:20408593-20408594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20393200-20408800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:20405200-20419600	Weak transcription	NHDF-Ad	bronchial
3	chr4:20406000-20409200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:20406200-20409200	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:20406200-20420000	Weak transcription	Fetal Lung	lung
6	chr4:20406400-20409000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:20408800-20409400	Enhancers	Colon Smooth Muscle	Colon
8	chr4:20409000-20409600	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:20409000-20409800	Enhancers	Brain Anterior Caudate	brain
10	chr4:20409000-20410800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:20409200-20409600	Enhancers	Brain Hippocampus Middle	brain
12	chr4:20409200-20410200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:20409200-20411000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:20409400-20410000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:20409400-20410200	Enhancers	Ovary	ovary
16	chr4:20409400-20411600	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:20409600-20410200	Enhancers	Osteobl	bone

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