Variant report

Variant	esv3343735
Chromosome Location	chr20:12959752-12963050
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	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556268245	chr20:12959777-12959778	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs6074534	chr20:12959781-12959782	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369743011	chr20:12959802-12959803	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573180540	chr20:12959836-12959837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs149555075	chr20:12959855-12959856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527984001	chr20:12959869-12959870	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562053959	chr20:12959870-12959871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540187172	chr20:12959884-12959885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1321940	chr20:12959885-12959886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550409147	chr20:12959918-12959919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs118134534	chr20:12959948-12959949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs6074535	chr20:12959966-12959967	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs6105009	chr20:12959979-12959980	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570727469	chr20:12960002-12960003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187769898	chr20:12960007-12960008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139405393	chr20:12960021-12960022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147249005	chr20:12960089-12960090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572660647	chr20:12960124-12960125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549022385	chr20:12960139-12960140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540027491	chr20:12960144-12960145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6078854	chr20:12960153-12960154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556253552	chr20:12960193-12960194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112265788	chr20:12960198-12960199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569546303	chr20:12960204-12960205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140770951	chr20:12960211-12960212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192714805	chr20:12960236-12960237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143111434	chr20:12960264-12960265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147403498	chr20:12960284-12960285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77538284	chr20:12960320-12960321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116411831	chr20:12960346-12960347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139707799	chr20:12960351-12960352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555827150	chr20:12960378-12960379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142677096	chr20:12960471-12960472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575362150	chr20:12960487-12960488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543989042	chr20:12960497-12960498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555410665	chr20:12960500-12960501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563903167	chr20:12960503-12960504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532981536	chr20:12960506-12960507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540473427	chr20:12960507-12960508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560196136	chr20:12960509-12960510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs8121139	chr20:12960511-12960512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201066977	chr20:12960518-12960519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202039683	chr20:12960519-12960520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75551469	chr20:12960537-12960538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528869535	chr20:12960585-12960586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548747246	chr20:12960586-12960587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377139748	chr20:12960589-12960590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200557477	chr20:12960632-12960633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112479476	chr20:12960636-12960637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374045990	chr20:12960640-12960641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Autism	22102821	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12951600-12964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:12957200-12960000	Enhancers	Fetal Intestine Large	intestine
3	chr20:12958200-12964600	Weak transcription	Stomach Mucosa	stomach
4	chr20:12958400-12960000	Enhancers	Liver	Liver
5	chr20:12958600-12960000	Flanking Active TSS	HepG2	liver
6	chr20:12959000-12964800	Weak transcription	Placenta	Placenta
7	chr20:12959600-12959800	Enhancers	A549	lung
8	chr20:12959800-12960000	Weak transcription	A549	lung
9	chr20:12960000-12961600	Enhancers	HepG2	liver
10	chr20:12962600-12963000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:12962600-12963000	Enhancers	HMEC	breast
12	chr20:12962800-12963000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr20:12963000-12964200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:12963000-12964600	Weak transcription	HMEC	breast

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