Variant report

Variant	esv3458019
Chromosome Location	chr11:24658370-24664350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545609776	chr11:24658379-24658380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184191256	chr11:24658396-24658397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546647481	chr11:24658423-24658424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138578186	chr11:24658457-24658458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575932221	chr11:24658462-24658463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139882339	chr11:24658507-24658508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376560030	chr11:24658510-24658511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574904004	chr11:24658528-24658529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1546475	chr11:24658542-24658543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560665819	chr11:24658569-24658570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188942785	chr11:24658594-24658595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552389462	chr11:24658663-24658664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562553043	chr11:24658672-24658673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181185280	chr11:24658712-24658713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143768235	chr11:24658730-24658731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184934608	chr11:24658731-24658732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146885958	chr11:24658744-24658745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546966237	chr11:24658803-24658804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56172030	chr11:24658827-24658828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1972081	chr11:24658833-24658834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539147029	chr11:24658843-24658844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556181575	chr11:24658860-24658861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76512823	chr11:24658917-24658918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536539934	chr11:24658921-24658922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72880673	chr11:24658935-24658936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368241485	chr11:24658936-24658937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74827967	chr11:24658938-24658939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76858029	chr11:24658947-24658948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77035300	chr11:24658961-24658962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117429355	chr11:24658989-24658990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144492884	chr11:24659002-24659003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540680000	chr11:24659006-24659007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560277446	chr11:24659010-24659011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371630559	chr11:24659020-24659021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577128493	chr11:24659043-24659044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189391428	chr11:24659065-24659066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562973238	chr11:24659080-24659081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377626549	chr11:24659145-24659146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531416686	chr11:24659146-24659147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368830336	chr11:24659155-24659156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547965687	chr11:24659165-24659166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180983149	chr11:24659167-24659168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186172378	chr11:24659170-24659171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149137825	chr11:24659179-24659180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570360011	chr11:24659186-24659187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190898580	chr11:24659200-24659201	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs74621365	chr11:24659205-24659206	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142349030	chr11:24659216-24659217	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112068447	chr11:24659231-24659232	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs538471526	chr11:24659237-24659238	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24656400-24658600	Enhancers	Hela-S3	cervix
2	chr11:24657200-24658400	Enhancers	NHEK	skin
3	chr11:24657200-24659600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:24658000-24659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:24658000-24659200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:24658400-24658800	Weak transcription	NHEK	skin
7	chr11:24658600-24659000	Weak transcription	Hela-S3	cervix
8	chr11:24658800-24659600	Enhancers	NHEK	skin
9	chr11:24659000-24659400	Enhancers	Hela-S3	cervix
10	chr11:24659000-24659600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:24659200-24659400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:24659200-24659600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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