Variant report

Variant	esv2760185
Chromosome Location	chr11:15808636-15816484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 336 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2103359	chr11:15808636-15808637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565064285	chr11:15808645-15808646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539227271	chr11:15808653-15808654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139110110	chr11:15808655-15808656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77363623	chr11:15808673-15808674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143123552	chr11:15808692-15808693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150813754	chr11:15808700-15808701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573322471	chr11:15808715-15808716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540256844	chr11:15808747-15808748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1318855	chr11:15808750-15808751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181175152	chr11:15808761-15808762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545209320	chr11:15808762-15808763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12290250	chr11:15808781-15808782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139255302	chr11:15808805-15808806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542338694	chr11:15808832-15808833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560644477	chr11:15808921-15808922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528127987	chr11:15808980-15808981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546236112	chr11:15809008-15809009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375063036	chr11:15809029-15809030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571931727	chr11:15809041-15809042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4481992	chr11:15809156-15809157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186478777	chr11:15809237-15809238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532662726	chr11:15809245-15809246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551243551	chr11:15809246-15809247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569503743	chr11:15809247-15809248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117729422	chr11:15809260-15809261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1950093	chr11:15809295-15809296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189418866	chr11:15809331-15809332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149574527	chr11:15809345-15809346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534202987	chr11:15809366-15809367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550829730	chr11:15809373-15809374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181070444	chr11:15809374-15809375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567978570	chr11:15809376-15809377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374225838	chr11:15809377-15809378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1950092	chr11:15809401-15809402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144384525	chr11:15809410-15809411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371147163	chr11:15809476-15809477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575141011	chr11:15809518-15809519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542401961	chr11:15809519-15809520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560657042	chr11:15809537-15809538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572825248	chr11:15809543-15809544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185328998	chr11:15809546-15809547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540240562	chr11:15809573-15809574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12291972	chr11:15809581-15809582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532114193	chr11:15809657-15809658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551343003	chr11:15809692-15809693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12292141	chr11:15809705-15809706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536612216	chr11:15809708-15809709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530329398	chr11:15809712-15809713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548755464	chr11:15809752-15809753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15806000-15810200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:15810200-15810800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:15810800-15814000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:15813800-15828800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:15814000-15815000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:15814000-15816400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:15814000-15816400	Enhancers	Osteobl	bone
8	chr11:15814000-15816600	Enhancers	NH-A	brain
9	chr11:15814200-15815800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:15814200-15815800	Enhancers	NHEK	skin
11	chr11:15814400-15815800	Enhancers	HMEC	breast
12	chr11:15814400-15816200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:15814600-15816000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:15814600-15816200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:15814600-15817400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:15814800-15815400	Enhancers	NHLF	lung
17	chr11:15814800-15816400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:15814800-15816400	Enhancers	HSMM	muscle
19	chr11:15815200-15815600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:15815200-15815800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:15815400-15816000	Enhancers	Psoas Muscle	Psoas
22	chr11:15815800-15821200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:15816000-15816400	Weak transcription	Psoas Muscle	Psoas
24	chr11:15816000-15816600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:15816200-15820800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:15816200-15821400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:15816400-15817200	Enhancers	Psoas Muscle	Psoas
28	chr11:15816400-15821200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:15816400-15821200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:15816400-15821200	Weak transcription	Osteobl	bone
31	chr11:15816400-15821600	Weak transcription	HSMM	muscle

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