Variant report

Variant	nsv523141
Chromosome Location	chr11:107124903-107128014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107123368..107125286-chr11:107129770..107131910,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10890674	chr11:107124903-107124904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552997293	chr11:107124916-107124917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10890675	chr11:107124925-107124926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs2883632	chr11:107124946-107124947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374697362	chr11:107124951-107124952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1991199	chr11:107124961-107124962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572893991	chr11:107124965-107124966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546355238	chr11:107124967-107124968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78492625	chr11:107124968-107124969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562168010	chr11:107124987-107124988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376202084	chr11:107125060-107125061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574163334	chr11:107125077-107125078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559623059	chr11:107125097-107125098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112943049	chr11:107125128-107125129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190856896	chr11:107125132-107125133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182277223	chr11:107125135-107125136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185342914	chr11:107125162-107125163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151175084	chr11:107125165-107125166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539578827	chr11:107125225-107125226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559778262	chr11:107125245-107125246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533712498	chr11:107125277-107125278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190054206	chr11:107125324-107125325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112908650	chr11:107125334-107125335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1991200	chr11:107125349-107125350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10890676	chr11:107125357-107125358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574806677	chr11:107125382-107125383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541811464	chr11:107125510-107125511	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527715272	chr11:107125519-107125520	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78161844	chr11:107125527-107125528	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527296769	chr11:107125576-107125577	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372180430	chr11:107125601-107125602	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1472078	chr11:107125616-107125617	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182633435	chr11:107125645-107125646	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187358652	chr11:107125650-107125651	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10890677	chr11:107125684-107125685	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562008616	chr11:107125723-107125724	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567319807	chr11:107125745-107125746	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10890678	chr11:107125769-107125770	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10890679	chr11:107125785-107125786	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12789801	chr11:107125806-107125807	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533459990	chr11:107125818-107125819	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs551545274	chr11:107125819-107125820	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs566961228	chr11:107125824-107125825	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs58953496	chr11:107125847-107125848	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192985264	chr11:107125852-107125853	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs10890680	chr11:107125865-107125866	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572906270	chr11:107125886-107125887	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs147731956	chr11:107125917-107125918	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs556907522	chr11:107125952-107125953	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs575088114	chr11:107125964-107125965	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107123400-107126200	Enhancers	K562	blood
2	chr11:107123800-107125800	Enhancers	HepG2	liver
3	chr11:107125400-107125800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:107125400-107126000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:107125400-107126200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:107125400-107126200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:107125400-107126200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:107125400-107126200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:107125800-107126200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:107125800-107126200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:107126200-107139600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:107128000-107128400	Enhancers	Brain Germinal Matrix	brain
13	chr11:107128000-107130800	Enhancers	Cortex derived primary cultured neurospheres	brain

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