Variant report

Variant	esv3398288
Chromosome Location	chr11:23996709-23997277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559387209	chr11:23996713-23996714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74666356	chr11:23996798-23996799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72879342	chr11:23996812-23996813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143835746	chr11:23996823-23996824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565675669	chr11:23996836-23996837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190048611	chr11:23996887-23996888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551708830	chr11:23996896-23996897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554088340	chr11:23996918-23996919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138464802	chr11:23996937-23996938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565758147	chr11:23996956-23996957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201013230	chr11:23996964-23996965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201705621	chr11:23996965-23996966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533801479	chr11:23996985-23996986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531151796	chr11:23997014-23997015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558414257	chr11:23997103-23997104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546112536	chr11:23997115-23997116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535577106	chr11:23997116-23997117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200430663	chr11:23997122-23997123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16911969	chr11:23997178-23997179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572119968	chr11:23997185-23997186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7114619	chr11:23997207-23997208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139235111	chr11:23997228-23997229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558050211	chr11:23997233-23997234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79447320	chr11:23997261-23997262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23994600-23999600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:23994800-23998000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:23995800-23998000	Weak transcription	NH-A	brain
4	chr11:23995800-23999000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:23995800-23999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:23996000-23997400	Weak transcription	Osteobl	bone
7	chr11:23996600-23998000	Weak transcription	NHLF	lung

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