Variant report

Variant	nsv975211
Chromosome Location	chr11:87188939-87201373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:87190840-87190990	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr11:87190940-87191090	HepG2	liver:	n/a	n/a
3	CTCF	chr11:87190940-87191090	GM12864	blood:	n/a	n/a
4	FOS	chr11:87193235-87193530	HUVEC	blood vessel:	n/a	n/a
5	KAP1	chr11:87190394-87190689	HEK293	kidney:	n/a	n/a
6	MAFK	chr11:87199931-87200053	HepG2	liver:	n/a	n/a
7	MAFK	chr11:87199903-87200085	IMR90	lung:	n/a	n/a
8	POLR2A	chr11:87200281-87200288	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:87192508-87192645	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:87199639-87199652	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:87191278-87191393	ProgFib	skin:	n/a	n/a
12	POLR2A	chr11:87201370-87201476	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr11:87193232-87193242	MCF10A-Er-Src	breast:	n/a	n/a
14	ZNF143	chr11:87189094-87189127	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:87197219..87198779-chr11:87200306..87201927,2	K562	blood:
2	chr11:87197219..87198779-chr11:87200306..87201927,2	K562	blood:

Variant related genes	Relation type
ENSG00000255391	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 77 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142760969	chr11:87189031-87189032	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551984919	chr11:87189084-87189085	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564206586	chr11:87189095-87189096	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533052262	chr11:87189115-87189116	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114233717	chr11:87189116-87189117	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566418332	chr11:87189129-87189130	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555421426	chr11:87189134-87189135	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372774698	chr11:87189135-87189136	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182834711	chr11:87189165-87189166	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568788637	chr11:87189179-87189180	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181809293	chr11:87190618-87190619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs377547543	chr11:87190622-87190623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs187043035	chr11:87190630-87190631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554861559	chr11:87190849-87190850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147215842	chr11:87190850-87190851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542273354	chr11:87190855-87190856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562158068	chr11:87190856-87190857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531177579	chr11:87190860-87190861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140656251	chr11:87190861-87190862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs564872237	chr11:87190899-87190900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527583970	chr11:87190902-87190903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547619839	chr11:87190917-87190918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs567304883	chr11:87190932-87190933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs74707623	chr11:87190937-87190938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111951186	chr11:87190963-87190964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559623016	chr11:87192612-87192613	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs72963664	chr11:87192620-87192621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7358476	chr11:87192624-87192625	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs561702306	chr11:87192631-87192632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561765668	chr11:87193297-87193298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs80056071	chr11:87193411-87193412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544178873	chr11:87193415-87193416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs564475106	chr11:87193430-87193431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533669842	chr11:87193435-87193436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546926601	chr11:87193446-87193447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs560694342	chr11:87193455-87193456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs185412947	chr11:87193465-87193466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529093737	chr11:87193473-87193474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs528188571	chr11:87193486-87193487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs548278033	chr11:87193492-87193493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs36062939	chr11:87193499-87193500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs568139511	chr11:87193501-87193502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149358862	chr11:87193502-87193503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs550582735	chr11:87193511-87193512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs570804388	chr11:87193512-87193513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531436353	chr11:87195623-87195624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76363445	chr11:87195644-87195645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs377494256	chr11:87195706-87195707	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs533987369	chr11:87195707-87195708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs368630549	chr11:87195736-87195737	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87182200-87189000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:87188400-87189200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:87189000-87189200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:87190600-87191000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:87195600-87195800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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