Variant report

Variant	nsv975849
Chromosome Location	chr11:59698851-59704135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr11:59699006-59699568	K562	blood:	n/a	n/a
2	CBX3	chr11:59699128-59699456	K562	blood:	n/a	n/a
3	CTCF	chr11:59699880-59699990	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:59701036-59701136	K562	blood:	n/a	n/a
5	CTCF	chr11:59700300-59700450	HRE	kidney:	n/a	n/a
6	KAP1	chr11:59698983-59699661	K562	blood:	n/a	n/a
7	MAFK	chr11:59700340-59700491	HepG2	liver:	n/a	n/a
8	MYC	chr11:59699831-59699940	MCF-7	breast:	n/a	n/a
9	MYC	chr11:59699860-59699927	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:59699562-59699607	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:59699701-59699776	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:59701507-59701534	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:59704013-59704096	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:59699460-59699553	MCF-7	breast:	n/a	n/a
15	POLR2A	chr11:59699825-59699989	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:59699889-59699955	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:59699642-59699694	MCF-7	breast:	n/a	n/a
18	POLR2A	chr11:59701834-59701918	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr11:59701831-59702031	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF143	chr11:59699230-59699327	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59702370..59703893-chr11:59706554..59708573,2	K562	blood:
2	chr11:59699928..59702632-chr11:59711240..59714047,2	K562	blood:

No data

Variant related genes	Relation type
OOSP1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375336742	chr11:59699256-59699257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149513393	chr11:59699315-59699316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185754387	chr11:59699341-59699342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12798495	chr11:59699353-59699354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs534771905	chr11:59699371-59699372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143273159	chr11:59699413-59699414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111539195	chr11:59699451-59699452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs77181220	chr11:59699557-59699558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs566916861	chr11:59699561-59699562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538748330	chr11:59699590-59699591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556959022	chr11:59699598-59699599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575129758	chr11:59699606-59699607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543735313	chr11:59699663-59699664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565223469	chr11:59699666-59699667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs695157	chr11:59699682-59699683	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568692367	chr11:59699702-59699703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541179710	chr11:59699708-59699709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs537686834	chr11:59699750-59699751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148329980	chr11:59699751-59699752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554410994	chr11:59699839-59699840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs548388461	chr11:59699857-59699858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570058227	chr11:59699898-59699899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs180920728	chr11:59699953-59699954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184756099	chr11:59699964-59699965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs72912738	chr11:59701073-59701074	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11824842	chr11:59701087-59701088	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116135617	chr11:59701123-59701124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545889216	chr11:59701849-59701850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs373736611	chr11:59701865-59701866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs566163313	chr11:59701866-59701867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs562606162	chr11:59701873-59701874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs553647625	chr11:59701878-59701879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35601622	chr11:59701882-59701883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs11822628	chr11:59701956-59701957	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536058459	chr11:59701968-59701969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs187124512	chr11:59701997-59701998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531091482	chr11:59702020-59702021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs575907347	chr11:59702024-59702025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59699200-59700000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:59699600-59700000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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