Variant report

Variant	esv3323937
Chromosome Location	chr11:25980326-25983124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7932544	chr11:25980326-25980327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557621457	chr11:25980335-25980336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115467654	chr11:25980360-25980361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192781628	chr11:25980395-25980396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564984268	chr11:25980404-25980405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs328464	chr11:25980418-25980419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541244979	chr11:25980424-25980425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182475591	chr11:25980466-25980467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574284180	chr11:25980478-25980479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201238848	chr11:25980508-25980509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368610282	chr11:25980523-25980524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567396296	chr11:25980580-25980581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74731847	chr11:25980581-25980582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76491642	chr11:25980587-25980588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553578400	chr11:25980604-25980605	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368763532	chr11:25980615-25980616	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1609927	chr11:25980619-25980620	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112554872	chr11:25980653-25980654	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35244317	chr11:25980714-25980715	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142682749	chr11:25980715-25980716	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534819619	chr11:25980735-25980736	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547052254	chr11:25980741-25980742	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189237873	chr11:25980744-25980745	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs34710826	chr11:25980778-25980779	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs117194540	chr11:25980897-25980898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557370867	chr11:25980950-25980951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575971378	chr11:25981014-25981015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543053960	chr11:25981052-25981053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537061421	chr11:25981067-25981068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371732135	chr11:25981069-25981070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545767983	chr11:25981085-25981086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7113777	chr11:25981086-25981087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113179741	chr11:25981093-25981094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193078911	chr11:25981119-25981120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113196198	chr11:25981137-25981138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370364820	chr11:25981162-25981163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542949719	chr11:25981165-25981166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574594213	chr11:25981203-25981204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs973832	chr11:25981249-25981250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150752716	chr11:25981276-25981277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188873612	chr11:25981329-25981330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200852171	chr11:25981358-25981359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530688194	chr11:25981391-25981392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191843608	chr11:25981404-25981405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564171986	chr11:25981405-25981406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139086212	chr11:25981440-25981441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12287905	chr11:25981442-25981443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529030744	chr11:25981443-25981444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535683264	chr11:25981526-25981527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551162646	chr11:25981611-25981612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25974400-25989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:25975800-25982400	Weak transcription	Fetal Kidney	kidney
3	chr11:25979000-25981000	Enhancers	Fetal Lung	lung
4	chr11:25979400-25988600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:25980600-25980800	Bivalent/Poised TSS	Gastric	stomach
6	chr11:25982400-25982600	Enhancers	Fetal Kidney	kidney

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