Variant report

Variant	nsv975187
Chromosome Location	chr11:56785384-56791087
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	CEBPB	chr11:56785783-56786060	A549	lung:	n/a	n/a
2	CEBPB	chr11:56785764-56786096	IMR90	lung:	n/a	n/a
3	FOS	chr11:56790610-56791024	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:56790622-56790963	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:56790643-56790940	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:56785795-56785886	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:56787104-56787286	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:56790740-56791991	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr11:56790642-56791035	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr11:56789794-56789970	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr11:56788519-56788780	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr11:56790705-56790870	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr11:56790402-56791152	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr11:56790701-56791035	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
OR5AK1P	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576097554	chr11:56788601-56788602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145135555	chr11:56788641-56788642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190837974	chr11:56788704-56788705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532417946	chr11:56788720-56788721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540880305	chr11:56788721-56788722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181027392	chr11:56788824-56788825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559714867	chr11:56788847-56788848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554183455	chr11:56788858-56788859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377215448	chr11:56788901-56788902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76490175	chr11:56788941-56788942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577338205	chr11:56788981-56788982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184992490	chr11:56789015-56789016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138919922	chr11:56789067-56789068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142255920	chr11:56789071-56789072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546395023	chr11:56789099-56789100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369488307	chr11:56789139-56789140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567713777	chr11:56789220-56789221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35374403	chr11:56789289-56789290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56892375	chr11:56789365-56789366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35050414	chr11:56789612-56789613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183205485	chr11:56789636-56789637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563107264	chr11:56789669-56789670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531422851	chr11:56789671-56789672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544122356	chr11:56789681-56789682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3017317	chr11:56789707-56789708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541276259	chr11:56789736-56789737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559678490	chr11:56789764-56789765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574796729	chr11:56789789-56789790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187411967	chr11:56789790-56789791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191646574	chr11:56789872-56789873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531798529	chr11:56789895-56789896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10896566	chr11:56789911-56789912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565065211	chr11:56789936-56789937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527301270	chr11:56789967-56789968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12419826	chr11:56789983-56789984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112419935	chr11:56790014-56790015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188132722	chr11:56790034-56790035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201491520	chr11:56790053-56790054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548140062	chr11:56790092-56790093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570678694	chr11:56790127-56790128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12418588	chr11:56790180-56790181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs117734071	chr11:56790186-56790187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192663888	chr11:56790194-56790195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10466677	chr11:56790205-56790206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183900494	chr11:56790207-56790208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186793903	chr11:56790210-56790211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373891413	chr11:56790215-56790216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547090477	chr11:56790216-56790217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563636880	chr11:56790239-56790240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576338083	chr11:56790244-56790245	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56788600-56789000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:56788800-56789400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr11:56789000-56789400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:56789600-56790400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:56790400-56791000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:56791000-56791200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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