Variant report

Variant	nsv1054602
Chromosome Location	chr11:106460454-106514773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:106480957..106482975-chr11:106532869..106534369,2	MCF-7	breast:
2	chr11:106487675..106490177-chr11:106493094..106495148,2	K562	blood:
3	chr11:106456906..106459991-chr11:106461839..106465543,3	K562	blood:
4	chr11:106487675..106490177-chr11:106493094..106495148,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUCY1A2-2	chr11:106474900-106475095	XLOC_009543

Extended variants
information (count: 921 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:921 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551587534	chr11:106462429-106462430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377244413	chr11:106462444-106462445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566926677	chr11:106462467-106462468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190628453	chr11:106462468-106462469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73546019	chr11:106462564-106462565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187013867	chr11:106462659-106462660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191448046	chr11:106462688-106462689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556857257	chr11:106462705-106462706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182615987	chr11:106462715-106462716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527241499	chr11:106462727-106462728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142505807	chr11:106462778-106462779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185387410	chr11:106462808-106462809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369833899	chr11:106462811-106462812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547429103	chr11:106462852-106462853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557584198	chr11:106462857-106462858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572929023	chr11:106462864-106462865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539918677	chr11:106462892-106462893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561394290	chr11:106462915-106462916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573290892	chr11:106462924-106462925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369555330	chr11:106462995-106462996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560994834	chr11:106463063-106463064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544109549	chr11:106463065-106463066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562396631	chr11:106463105-106463106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73546021	chr11:106463163-106463164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189861311	chr11:106463174-106463175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560071372	chr11:106463199-106463200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72983814	chr11:106463242-106463243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549494486	chr11:106463250-106463251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146120867	chr11:106463274-106463275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200048474	chr11:106463292-106463293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369087142	chr11:106463300-106463301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377078993	chr11:106463307-106463308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34083913	chr11:106463312-106463313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140143475	chr11:106463313-106463314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538948936	chr11:106463333-106463334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142441619	chr11:106463341-106463342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113732117	chr11:106463350-106463351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372006192	chr11:106463365-106463366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182184993	chr11:106463399-106463400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533682276	chr11:106463444-106463445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4754162	chr11:106463501-106463502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374281672	chr11:106463561-106463562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78902987	chr11:106463562-106463563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115634129	chr11:106463566-106463567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563960158	chr11:106463580-106463581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1793063	chr11:106463607-106463608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543777492	chr11:106463627-106463628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564491850	chr11:106463642-106463643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111919933	chr11:106463772-106463773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186454593	chr11:106463783-106463784	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106462400-106465800	Enhancers	Dnd41	blood
2	chr11:106463800-106464400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:106464400-106464800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:106464400-106464800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:106464400-106464800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:106464600-106466200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:106464800-106465600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:106464800-106465800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:106465400-106466000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:106465400-106466000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:106465400-106466200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:106465600-106465800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:106465600-106466000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:106465600-106466000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:106465600-106466000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:106465600-106466000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:106465600-106466000	Enhancers	NH-A	brain
18	chr11:106465600-106466200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:106465600-106466200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:106465800-106466200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:106465800-106466200	Flanking Active TSS	Dnd41	blood
22	chr11:106465800-106467000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:106466200-106467600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:106466200-106467800	Enhancers	Dnd41	blood
25	chr11:106467000-106472400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:106471000-106471600	Enhancers	Dnd41	blood
27	chr11:106472200-106472800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:106472400-106472800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:106472400-106473000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:106472600-106473000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:106472600-106473000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:106472600-106473200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:106472600-106473200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:106479200-106480200	Enhancers	NHEK	skin
35	chr11:106479400-106480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:106479400-106480200	Enhancers	HMEC	breast
37	chr11:106479600-106480200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:106480000-106482400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:106482400-106483800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:106485000-106485400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:106489800-106490400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr11:106489800-106491800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:106491800-106492600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:106492600-106492800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:106492800-106493600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:106496000-106496600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:106496400-106496600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:106496400-106496800	Enhancers	Dnd41	blood
49	chr11:106496400-106497200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:106502600-106503600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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