Variant report

Variant	esv3452067
Chromosome Location	chr11:104953416-104969855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 442 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113252919	chr11:104953461-104953462	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564833301	chr11:104953473-104953474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs533704639	chr11:104953481-104953482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545870352	chr11:104953530-104953531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1847301	chr11:104953577-104953578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528264780	chr11:104953592-104953593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184434168	chr11:104953649-104953650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75101290	chr11:104953651-104953652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189913222	chr11:104953652-104953653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536038398	chr11:104953657-104953658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75308712	chr11:104953671-104953672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565841880	chr11:104953711-104953712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536665381	chr11:104953719-104953720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181556362	chr11:104953728-104953729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184711478	chr11:104953730-104953731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189644421	chr11:104953736-104953737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145241560	chr11:104953755-104953756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557209294	chr11:104953767-104953768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180686263	chr11:104953779-104953780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542809896	chr11:104953803-104953804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532112401	chr11:104953814-104953815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186303390	chr11:104953821-104953822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572988580	chr11:104953830-104953831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545108133	chr11:104953833-104953834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149146750	chr11:104953873-104953874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552311357	chr11:104953875-104953876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543802201	chr11:104954006-104954007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10895769	chr11:104954019-104954020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs529518048	chr11:104954117-104954118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376091702	chr11:104954155-104954156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112935176	chr11:104954176-104954177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548545825	chr11:104954213-104954214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565903280	chr11:104954245-104954246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528600115	chr11:104954253-104954254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569674804	chr11:104954269-104954270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189189561	chr11:104954293-104954294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142259664	chr11:104954331-104954332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71484389	chr11:104954346-104954347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557027061	chr11:104954362-104954363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5010119	chr11:104954371-104954372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536120935	chr11:104954374-104954375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569751780	chr11:104954378-104954379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181603836	chr11:104954397-104954398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573053881	chr11:104954400-104954401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1818157	chr11:104954492-104954493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187080017	chr11:104954494-104954495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191514179	chr11:104954522-104954523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544201544	chr11:104954571-104954572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183420731	chr11:104954576-104954577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529609338	chr11:104954578-104954579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104950600-104953800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:104951000-104953600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:104952200-104956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:104952800-104953600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:104953000-104953800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:104953200-104953600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:104953600-104953800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:104961800-104962000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:104962000-104962800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:104962600-104963600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:104962800-104963000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:104962800-104963600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:104962800-104964000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:104962800-104964400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:104963000-104963200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:104963000-104963200	Enhancers	NHEK	skin
17	chr11:104963000-104963400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:104963000-104963400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:104963000-104963400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:104963000-104964400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:104963200-104963400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:104963200-104963400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:104963200-104963400	Active TSS	HMEC	breast
24	chr11:104963200-104964000	Enhancers	Hela-S3	cervix
25	chr11:104963200-104964200	Flanking Active TSS	NHEK	skin
26	chr11:104963400-104963600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:104963400-104963800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:104963400-104963800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:104963400-104963800	Flanking Active TSS	HMEC	breast
30	chr11:104963400-104970200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:104963600-104963800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:104963800-104964200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:104963800-104964200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:104963800-104964200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:104963800-104964200	Enhancers	HMEC	breast
36	chr11:104964200-104964400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:104964200-104964400	Enhancers	NHEK	skin
38	chr11:104964400-104969600	Weak transcription	NHEK	skin
39	chr11:104964400-104971600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:104966200-104969600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:104968000-104969600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:104968600-104970000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:104969600-104970200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:104969600-104970200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:104969600-104970200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:104969600-104970600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:104969600-104970600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr11:104969600-104972200	Enhancers	NHEK	skin
49	chr11:104969800-104970800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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