Variant report

Variant	esv3377156
Chromosome Location	chr20:22466914-22469565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 56 )

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	rs150406941	chr20:22466919-22466920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8121889	chr20:22466926-22466927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572713282	chr20:22466984-22466985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544796675	chr20:22466997-22466998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8117208	chr20:22467029-22467030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564163864	chr20:22467039-22467040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531660834	chr20:22467055-22467056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143977532	chr20:22467056-22467057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6036129	chr20:22467072-22467073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145950316	chr20:22467081-22467082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184410491	chr20:22467123-22467124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529993372	chr20:22467126-22467127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547278010	chr20:22467140-22467141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567161414	chr20:22467163-22467164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537412199	chr20:22467265-22467266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532800897	chr20:22467286-22467287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552780957	chr20:22467364-22467365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571398872	chr20:22467415-22467416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189704674	chr20:22467424-22467425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117603043	chr20:22467530-22467531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567257843	chr20:22467533-22467534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535832649	chr20:22467629-22467630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529489455	chr20:22467633-22467634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552892290	chr20:22467642-22467643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577269173	chr20:22467752-22467753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73087891	chr20:22467756-22467757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544833358	chr20:22467774-22467775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558317791	chr20:22467814-22467815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575316329	chr20:22467825-22467826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139861339	chr20:22467829-22467830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566322329	chr20:22467878-22467879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73900500	chr20:22467880-22467881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530146592	chr20:22468035-22468036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6048119	chr20:22468137-22468138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113147478	chr20:22468143-22468144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560332950	chr20:22468145-22468146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149705857	chr20:22468225-22468226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192727608	chr20:22468264-22468265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532837714	chr20:22468319-22468320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572127999	chr20:22468324-22468325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145542067	chr20:22468374-22468375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569457364	chr20:22468395-22468396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531765392	chr20:22468413-22468414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550660303	chr20:22468431-22468432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148879985	chr20:22468476-22468477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142658534	chr20:22468484-22468485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6132519	chr20:22468523-22468524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566465991	chr20:22468541-22468542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373644420	chr20:22468545-22468546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558381986	chr20:22468682-22468683	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	chr20:22465400-22469800	Weak transcription	HepG2	liver
2	chr20:22465400-22470000	Weak transcription	Liver	Liver
3	chr20:22465400-22470200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr20:22465400-22470200	Weak transcription	Pancreas	Pancrea
5	chr20:22465400-22470200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr20:22466000-22469400	Weak transcription	Stomach Mucosa	stomach
7	chr20:22468800-22470200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr20:22468800-22470400	Enhancers	A549	lung
9	chr20:22469400-22470600	Enhancers	Stomach Mucosa	stomach

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