Variant report

Variant	esv2520553
Chromosome Location	chr11:25664909-25673096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548592167	chr11:25670836-25670837	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566990028	chr11:25670841-25670842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537550474	chr11:25670851-25670852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190265358	chr11:25670861-25670862	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113781229	chr11:25670876-25670877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182027856	chr11:25670885-25670886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553806121	chr11:25670896-25670897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113581017	chr11:25670901-25670902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190117466	chr11:25670902-25670903	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs150901025	chr11:25670905-25670906	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576559910	chr11:25670914-25670915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543983501	chr11:25670924-25670925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs58222984	chr11:25670925-25670926	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10834737	chr11:25670930-25670931	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533934942	chr11:25670935-25670936	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182697540	chr11:25670937-25670938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559769678	chr11:25670958-25670959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs10834738	chr11:25670965-25670966	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551149071	chr11:25670970-25670971	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185430589	chr11:25670974-25670975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140823820	chr11:25670991-25670992	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113094657	chr11:25670992-25670993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs55766940	chr11:25670998-25670999	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549499590	chr11:25671002-25671003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571395248	chr11:25671003-25671004	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538423953	chr11:25671016-25671017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182491561	chr11:25671018-25671019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565793866	chr11:25671022-25671023	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538467901	chr11:25671026-25671027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555001685	chr11:25671050-25671051	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10834739	chr11:25671059-25671060	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189146884	chr11:25671073-25671074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369152363	chr11:25671074-25671075	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558811361	chr11:25671087-25671088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577290712	chr11:25671119-25671120	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs34373551	chr11:25671127-25671128	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541232394	chr11:25671132-25671133	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559908114	chr11:25671147-25671148	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7949635	chr11:25671158-25671159	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542155349	chr11:25671160-25671161	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142237839	chr11:25671162-25671163	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs531231507	chr11:25671164-25671165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs79470838	chr11:25671167-25671168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs140135680	chr11:25671178-25671179	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs193034489	chr11:25671181-25671182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7936018	chr11:25671189-25671190	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183069070	chr11:25671203-25671204	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs199818414	chr11:25671207-25671208	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200504751	chr11:25671220-25671221	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201490635	chr11:25671221-25671222	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25670800-25671400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:25671000-25671400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:25671200-25672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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