Variant report

Variant	esv3322928
Chromosome Location	chr11:59962526-59963774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 61 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539778038	chr11:59962545-59962546	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552028445	chr11:59962582-59962583	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs71036560	chr11:59962588-59962589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs398016215	chr11:59962591-59962592	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577992710	chr11:59962605-59962606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566770506	chr11:59962661-59962662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192729846	chr11:59962676-59962677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555497706	chr11:59962709-59962710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550930546	chr11:59962714-59962715	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111674242	chr11:59962765-59962766	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs61901745	chr11:59962781-59962782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577956758	chr11:59962789-59962790	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529622844	chr11:59962811-59962812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117923441	chr11:59962833-59962834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113521604	chr11:59962853-59962854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560465529	chr11:59962868-59962869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572312796	chr11:59962960-59962961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148344215	chr11:59962973-59962974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1834552	chr11:59963002-59963003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561020194	chr11:59963012-59963013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142162751	chr11:59963023-59963024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549832135	chr11:59963048-59963049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61650997	chr11:59963094-59963095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201086444	chr11:59963100-59963101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs655356	chr11:59963102-59963103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374115391	chr11:59963103-59963104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1426246	chr11:59963104-59963105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7482842	chr11:59963106-59963107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185247537	chr11:59963180-59963181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532130372	chr11:59963215-59963216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs115515645	chr11:59963346-59963347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs654443	chr11:59963357-59963358	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs377632923	chr11:59963388-59963389	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547503500	chr11:59963402-59963403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549185605	chr11:59963405-59963406	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190175009	chr11:59963415-59963416	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537991367	chr11:59963467-59963468	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370739027	chr11:59963502-59963503	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556601002	chr11:59963546-59963547	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs193234661	chr11:59963563-59963564	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145958332	chr11:59963564-59963565	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539016221	chr11:59963565-59963566	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs139867471	chr11:59963581-59963582	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550182134	chr11:59963582-59963583	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs143163876	chr11:59963586-59963587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs554821100	chr11:59963587-59963588	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564053195	chr11:59963623-59963624	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184830313	chr11:59963641-59963642	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189395082	chr11:59963691-59963692	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564983454	chr11:59963727-59963728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59960200-59965000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:59960400-59962800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:59960400-59965400	Enhancers	Dnd41	blood
4	chr11:59961000-59963600	Enhancers	Fetal Intestine Large	intestine
5	chr11:59961000-59963800	Enhancers	Primary B cells from cord blood	blood
6	chr11:59961000-59965000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:59961200-59962800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:59961200-59963600	Enhancers	Fetal Intestine Small	intestine
9	chr11:59961600-59963600	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:59961600-59963600	Enhancers	Ovary	ovary
11	chr11:59961800-59962600	Flanking Active TSS	K562	blood
12	chr11:59962000-59962600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:59962200-59965000	Enhancers	HUVEC	blood vessel
14	chr11:59962400-59963200	Enhancers	GM12878-XiMat	blood
15	chr11:59962400-59963400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:59962400-59963400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:59962400-59963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:59962600-59963400	Enhancers	K562	blood
19	chr11:59962800-59963200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:59962800-59963200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr11:59963200-59963800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:59963200-59963800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:59963200-59964000	Flanking Active TSS	GM12878-XiMat	blood
24	chr11:59963400-59963600	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:59963400-59963600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:59963400-59963800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:59963400-59963800	Flanking Active TSS	K562	blood
28	chr11:59963600-59964200	Weak transcription	Ovary	ovary

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