Variant report

Variant	nsv819435
Chromosome Location	chr11:102575468-102576590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:246)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:102576374-102576424	CMK	blood:	n/a
2	chr11:102576469-102576519	A549	lung:	n/a
3	chr11:102576374-102576424	CMK	blood:	n/a
4	chr11:102576469-102576519	A549	lung:	n/a
5	chr11:102576508-102576558	Jurkat	blood:	n/a
6	chr11:102576469-102576519	AG04450	lung:	fetal
7	chr11:102576374-102576424	SAEC	small airway:	n/a
8	chr11:102576508-102576558	HCPEpiC	choroid plexus:	n/a
9	chr11:102576374-102576424	Jurkat	blood:	n/a
10	chr11:102576374-102576424	NH-A	brain:	n/a
11	chr11:102576094-102576144	HRPEpiC	eye:	n/a
12	chr11:102576508-102576558	HAEpiC	amniotic membrane:	n/a
13	chr11:102576374-102576424	HCF	heart:	n/a
14	chr11:102576508-102576558	GM19239	blood:	n/a
15	chr11:102576469-102576519	HRCEpiC	kidney:	n/a
16	chr11:102576508-102576558	HIPEpiC	eye:	n/a
17	chr11:102576094-102576144	NB4	blood:	n/a
18	chr11:102576508-102576558	NT2-D1	testis:	n/a
19	chr11:102576469-102576519	ProgFib	skin:	n/a
20	chr11:102576094-102576144	BJ	skin:	n/a
21	chr11:102576374-102576424	ProgFib	skin:	n/a
22	chr11:102576094-102576144	Hela-S3	cervix:	n/a
23	chr11:102576469-102576519	Caco-2	colon:	n/a
24	chr11:102576508-102576558	NB4	blood:	n/a
25	chr11:102576469-102576519	AG10803	skin:	n/a
26	chr11:102576508-102576558	HMEC	breast:	n/a
27	chr11:102576094-102576144	LNCaP	prostate:	n/a
28	chr11:102576508-102576558	AG10803	skin:	n/a
29	chr11:102576374-102576424	GM12878	blood:	n/a
30	chr11:102576469-102576519	NB4	blood:	n/a
31	chr11:102576508-102576558	SK-N-MC	brain:	n/a
32	chr11:102576374-102576424	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:102576508-102576558	AG09309	skin:	n/a
34	chr11:102576508-102576558	SKMC	muscle:	n/a
35	chr11:102576508-102576558	SAEC	small airway:	n/a
36	chr11:102576508-102576558	ovcar-3	ovarian:	n/a
37	chr11:102576094-102576144	Jurkat	blood:	n/a
38	chr11:102576508-102576558	HEK293	kidney:	embryo
39	chr11:102576094-102576144	HNPCEpiC	eye:	n/a
40	chr11:102576374-102576424	PANC-1	pancreas:	n/a
41	chr11:102576469-102576519	GM06990	blood:	n/a
42	chr11:102576508-102576558	MCF-7	breast:	n/a
43	chr11:102576094-102576144	H1-hESC	embryonic stem cell:	embryo
44	chr11:102576374-102576424	SK-N-SH_RA	brain:	n/a
45	chr11:102576469-102576519	BE2_C	brain:	n/a
46	chr11:102576469-102576519	PANC-1	pancreas:	n/a
47	chr11:102576094-102576144	HRCEpiC	kidney:	n/a
48	chr11:102576469-102576519	SK-N-MC	brain:	n/a
49	chr11:102576469-102576519	PFSK-1	brain:	n/a
50	chr11:102576469-102576519	HepG2	liver:	n/a

No data

Variant related genes	Relation type
MMP27	CpG island

Extended variants
information (count: 57 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199822515	chr11:102575508-102575509	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369611444	chr11:102575518-102575519	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144957816	chr11:102575531-102575532	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371458210	chr11:102575554-102575555	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149024054	chr11:102575574-102575575	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191928271	chr11:102575599-102575600	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79750859	chr11:102575615-102575616	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs398097782	chr11:102575618-102575619	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113764420	chr11:102575619-102575620	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535441360	chr11:102575655-102575656	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73590685	chr11:102575694-102575695	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572622507	chr11:102575695-102575696	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11225388	chr11:102575739-102575740	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs12279227	chr11:102575754-102575755	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372370170	chr11:102575776-102575777	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184398383	chr11:102575782-102575783	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543702801	chr11:102575800-102575801	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563361904	chr11:102575831-102575832	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573816576	chr11:102575907-102575908	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189465336	chr11:102575930-102575931	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143045429	chr11:102575962-102575963	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533268838	chr11:102576025-102576026	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148266536	chr11:102576095-102576096	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181206737	chr11:102576103-102576104	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564884051	chr11:102576135-102576136	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141384840	chr11:102576152-102576153	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530729883	chr11:102576239-102576240	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375301646	chr11:102576250-102576251	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375874111	chr11:102576315-102576316	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200860822	chr11:102576321-102576322	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs199890406	chr11:102576343-102576344	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs2846707	chr11:102576358-102576359	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375954547	chr11:102576368-102576369	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs137937370	chr11:102576373-102576374	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1939015	chr11:102576375-102576376	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12099177	chr11:102576382-102576383	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374776742	chr11:102576385-102576386	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs147720824	chr11:102576391-102576392	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140789380	chr11:102576397-102576398	Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368255009	chr11:102576412-102576413	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566072299	chr11:102576421-102576422	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184904777	chr11:102576438-102576439	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558421984	chr11:102576439-102576440	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11225389	chr11:102576468-102576469	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs374493970	chr11:102576469-102576470	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189408947	chr11:102576470-102576471	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574047235	chr11:102576490-102576491	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12418360	chr11:102576493-102576494	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376342182	chr11:102576497-102576498	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146980600	chr11:102576531-102576532	Flanking Active TSS Active TSS Weak transcription	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
Melanoma	22183965	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
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102572600-102579800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:102575200-102575600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:102575400-102575600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:102575400-102576600	Active TSS	NHDF-Ad	bronchial
5	chr11:102575600-102575800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:102575600-102576000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:102575600-102576000	Active TSS	Adipose Nuclei	Adipose
8	chr11:102575600-102576200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:102575600-102576600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:102575800-102576200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:102576000-102576200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:102576000-102576200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:102576200-102576400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:102576200-102576400	Active TSS	Adipose Nuclei	Adipose
15	chr11:102576400-102576600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:102576400-102576600	Flanking Active TSS	Adipose Nuclei	Adipose

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