Variant report

Variant	nsv556350
Chromosome Location	chr11:107240249-107250851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107241951..107244732-chr11:107327122..107328857,2	K562	blood:
2	chr11:107240491..107241393-chr16:2244600..2245300,2	MCF-7	breast:
3	chr11:107237489..107239255-chr11:107241546..107243344,2	K562	blood:

Variant related genes	Relation type
ENSG00000152404	chromatin interactions

Extended variants
information (count: 369 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552612080	chr11:107240255-107240256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193173504	chr11:107240259-107240260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146446558	chr11:107240321-107240322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560734881	chr11:107240347-107240348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185431724	chr11:107240391-107240392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75372696	chr11:107240416-107240417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549684459	chr11:107240451-107240452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561295892	chr11:107240518-107240519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531711465	chr11:107240549-107240550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140800142	chr11:107240579-107240580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571613194	chr11:107240583-107240584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532632366	chr11:107240604-107240605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551325008	chr11:107240692-107240693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566313153	chr11:107240700-107240701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11212190	chr11:107240737-107240738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs555212817	chr11:107240756-107240757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566937749	chr11:107240817-107240818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587804	chr11:107240846-107240847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78337304	chr11:107240895-107240896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149821774	chr11:107240958-107240959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556226665	chr11:107241042-107241043	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190584120	chr11:107241064-107241065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145818128	chr11:107241091-107241092	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192626217	chr11:107241105-107241106	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77754959	chr11:107241182-107241183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs586383	chr11:107241183-107241184	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183619631	chr11:107241193-107241194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs188316671	chr11:107241253-107241254	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs11376850	chr11:107241275-107241276	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs397699928	chr11:107241287-107241288	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200480457	chr11:107241288-107241289	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561532460	chr11:107241322-107241323	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531749974	chr11:107241364-107241365	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543408903	chr11:107241374-107241375	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2432863	chr11:107241535-107241536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs2508680	chr11:107241543-107241544	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs547845565	chr11:107241555-107241556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566349519	chr11:107241582-107241583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181059484	chr11:107241634-107241635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548874135	chr11:107241645-107241646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs584171	chr11:107241654-107241655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544539776	chr11:107241686-107241687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557770574	chr11:107241697-107241698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs489599	chr11:107241720-107241721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577136063	chr11:107241739-107241740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77144691	chr11:107241753-107241754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111870461	chr11:107241802-107241803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186568200	chr11:107241891-107241892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571207484	chr11:107241947-107241948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538384423	chr11:107241963-107241964	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:107198200-107240800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:107215800-107240800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:107221800-107258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:107223000-107253000	Weak transcription	Liver	Liver
7	chr11:107223000-107253600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:107223000-107256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:107223000-107260600	Weak transcription	Brain Anterior Caudate	brain
10	chr11:107223000-107260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:107224000-107258400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:107224600-107249600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:107224600-107253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:107225800-107250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:107225800-107256400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:107228200-107241000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:107230000-107253400	Weak transcription	Lung	lung
18	chr11:107230200-107261400	Weak transcription	Ovary	ovary
19	chr11:107232200-107249600	Weak transcription	Primary T cells from cord blood	blood
20	chr11:107232400-107257800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:107239400-107240800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:107239400-107253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:107240200-107240400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:107240400-107240800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:107240600-107241200	Enhancers	HepG2	liver
26	chr11:107240600-107261800	Weak transcription	Fetal Lung	lung
27	chr11:107240800-107241000	Enhancers	GM12878-XiMat	blood
28	chr11:107240800-107241200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:107240800-107241600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:107240800-107241600	Enhancers	HSMMtube	muscle
31	chr11:107240800-107241800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:107241000-107241200	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:107241000-107241400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:107241000-107241600	Enhancers	NHEK	skin
35	chr11:107241000-107241800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr11:107241000-107253000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:107241200-107241400	Active TSS	GM12878-XiMat	blood
38	chr11:107241200-107241600	Enhancers	A549	lung
39	chr11:107241200-107241600	Enhancers	HUVEC	blood vessel
40	chr11:107241200-107241600	Enhancers	NH-A	brain
41	chr11:107241400-107241600	Enhancers	Fetal Kidney	kidney
42	chr11:107241600-107243000	Weak transcription	NHEK	skin
43	chr11:107241600-107261200	Weak transcription	Fetal Kidney	kidney
44	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
45	chr11:107241800-107246400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:107243000-107243200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:107243000-107243200	Enhancers	K562	blood
48	chr11:107243000-107243400	Enhancers	NHEK	skin
49	chr11:107243000-107244200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:107243000-107244200	Active TSS	HUES6 Cell Line	embryonic stem cell

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