Variant report

Variant	esv3428094
Chromosome Location	chr20:22450900-22453266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22453263..22454880-chr20:22456523..22459115,2	K562	blood:
2	chr20:22433147..22434679-chr20:22450224..22451820,2	K562	blood:
3	chr20:22445335..22448023-chr20:22452182..22454681,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77660168	chr20:22450905-22450906	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs79141074	chr20:22450906-22450907	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs75564551	chr20:22450909-22450910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78486196	chr20:22450911-22450912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529451975	chr20:22450919-22450920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549127967	chr20:22450945-22450946	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374700272	chr20:22450984-22450985	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567856526	chr20:22450990-22450991	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552114079	chr20:22451068-22451069	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs367704795	chr20:22451074-22451075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547106550	chr20:22451145-22451146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149058961	chr20:22451173-22451174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188982111	chr20:22451379-22451380	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs181508004	chr20:22451395-22451396	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187022696	chr20:22451423-22451424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569923580	chr20:22451510-22451511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535897749	chr20:22451533-22451534	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535686308	chr20:22451549-22451550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs386813289	chr20:22451593-22451594	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116312884	chr20:22451594-22451595	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575901043	chr20:22451611-22451612	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537240534	chr20:22451620-22451621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs143079982	chr20:22451645-22451646	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577989546	chr20:22451647-22451648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543202014	chr20:22451654-22451655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs191009256	chr20:22451663-22451664	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564020358	chr20:22451684-22451685	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558067924	chr20:22451687-22451688	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148235378	chr20:22451715-22451716	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542862191	chr20:22451810-22451811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73296688	chr20:22451823-22451824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183278311	chr20:22451971-22451972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373993264	chr20:22451985-22451986	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111235505	chr20:22451999-22452000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377645997	chr20:22452112-22452113	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547485431	chr20:22452131-22452132	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370788804	chr20:22452145-22452146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs528767230	chr20:22452153-22452154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs532950557	chr20:22452155-22452156	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146263715	chr20:22452182-22452183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73900495	chr20:22452192-22452193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535723246	chr20:22452219-22452220	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549231860	chr20:22452232-22452233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185929263	chr20:22452259-22452260	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371928303	chr20:22452303-22452304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138107608	chr20:22452386-22452387	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558237363	chr20:22452396-22452397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs578005367	chr20:22452397-22452398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs537496073	chr20:22452463-22452464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142697376	chr20:22452468-22452469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22446400-22451600	Weak transcription	Gastric	stomach
2	chr20:22448200-22452000	Weak transcription	Pancreas	Pancrea
3	chr20:22448200-22452000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:22448400-22451400	Enhancers	HepG2	liver
5	chr20:22450000-22452200	Weak transcription	K562	blood
6	chr20:22450400-22451200	Weak transcription	Stomach Mucosa	stomach
7	chr20:22450400-22452400	Enhancers	Liver	Liver
8	chr20:22450800-22451600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr20:22450800-22452400	Flanking Active TSS	A549	lung
10	chr20:22451200-22452800	Enhancers	Stomach Mucosa	stomach
11	chr20:22451400-22452000	Flanking Active TSS	HepG2	liver
12	chr20:22451600-22452600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr20:22451600-22452800	Enhancers	Gastric	stomach
14	chr20:22452000-22452400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr20:22452000-22452400	Enhancers	HepG2	liver
16	chr20:22452000-22452800	Enhancers	Pancreas	Pancrea
17	chr20:22452200-22452800	Enhancers	K562	blood
18	chr20:22452200-22453200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:22452400-22452600	Flanking Active TSS	HepG2	liver
20	chr20:22452400-22453200	Enhancers	A549	lung
21	chr20:22452400-22453400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:22452600-22452800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr20:22452600-22453200	Enhancers	HepG2	liver
24	chr20:22452800-22454200	Weak transcription	Stomach Mucosa	stomach
25	chr20:22452800-22464000	Weak transcription	Gastric	stomach
26	chr20:22453200-22453400	Bivalent Enhancer	HepG2	liver
27	chr20:22453200-22454400	Weak transcription	A549	lung
28	chr20:22453200-22454800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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