Variant report

Variant	esv3322799
Chromosome Location	chr20:22829252-22834150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs543468386	chr20:22829275-22829276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563425754	chr20:22829312-22829313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150109492	chr20:22829316-22829317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573004041	chr20:22829326-22829327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113128728	chr20:22829343-22829344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202153133	chr20:22829369-22829370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113492146	chr20:22829411-22829412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138520203	chr20:22829421-22829422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547643860	chr20:22829458-22829459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570673205	chr20:22829467-22829468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527387163	chr20:22829469-22829470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199548681	chr20:22829489-22829490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57737024	chr20:22829491-22829492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531801433	chr20:22829492-22829493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556225086	chr20:22829545-22829546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569765862	chr20:22829566-22829567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535587035	chr20:22829568-22829569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565957166	chr20:22829576-22829577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191319842	chr20:22829589-22829590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374407244	chr20:22829598-22829599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368332773	chr20:22829631-22829632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558395281	chr20:22829670-22829671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183007096	chr20:22829681-22829682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149277059	chr20:22829690-22829691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543389153	chr20:22829700-22829701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563387555	chr20:22829746-22829747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573785398	chr20:22829769-22829770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73900757	chr20:22829776-22829777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77039609	chr20:22829779-22829780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143531510	chr20:22829793-22829794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148036350	chr20:22829794-22829795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564387548	chr20:22829805-22829806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142619064	chr20:22829862-22829863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35522010	chr20:22829914-22829915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549794039	chr20:22829990-22829991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73620326	chr20:22830086-22830087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187705745	chr20:22830118-22830119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146044745	chr20:22830137-22830138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549072458	chr20:22830203-22830204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73900758	chr20:22830258-22830259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535202988	chr20:22830266-22830267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569627147	chr20:22830284-22830285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578193747	chr20:22830425-22830426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536594870	chr20:22830442-22830443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537386865	chr20:22830450-22830451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557238284	chr20:22830462-22830463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573649267	chr20:22830476-22830477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140019485	chr20:22830529-22830530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559783807	chr20:22830530-22830531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371907708	chr20:22830567-22830568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22822000-22831600	Weak transcription	A549	lung
2	chr20:22830400-22831000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:22831200-22831600	Weak transcription	Stomach Mucosa	stomach
4	chr20:22831600-22831800	ZNF genes & repeats	A549	lung
5	chr20:22831800-22832000	Weak transcription	A549	lung
6	chr20:22832000-22832600	Enhancers	A549	lung
7	chr20:22832200-22832600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr20:22832200-22832600	Enhancers	HUVEC	blood vessel
9	chr20:22832200-22833000	Enhancers	Stomach Mucosa	stomach

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