Variant report

Variant	nsv972965
Chromosome Location	chr11:25551880-25557848
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	chr11:25557121-25557458	Hela-S3	cervix:	n/a	n/a
2	FOS	chr11:25557050-25557254	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:25557044-25557245	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:25556137-25556204	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000265837	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566342035	chr11:25551895-25551896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190205204	chr11:25551904-25551905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3864865	chr11:25551992-25551993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548952009	chr11:25552029-25552030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139096040	chr11:25552042-25552043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10834704	chr11:25552049-25552050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572597488	chr11:25552097-25552098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17242279	chr11:25552123-25552124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556222232	chr11:25552156-25552157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34417495	chr11:25552162-25552163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76480092	chr11:25552200-25552201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538432890	chr11:25552209-25552210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553568708	chr11:25552265-25552266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79128383	chr11:25552282-25552283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542518594	chr11:25552305-25552306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532702162	chr11:25552317-25552318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576379748	chr11:25552321-25552322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12285177	chr11:25552334-25552335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565362646	chr11:25552345-25552346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532512591	chr11:25552365-25552366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182418610	chr11:25552419-25552420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186693585	chr11:25552420-25552421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11028754	chr11:25552448-25552449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548890530	chr11:25552450-25552451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191116021	chr11:25552461-25552462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11028755	chr11:25552466-25552467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148690434	chr11:25552499-25552500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11028756	chr11:25552531-25552532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552631567	chr11:25552541-25552542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553519895	chr11:25552552-25552553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565551626	chr11:25552557-25552558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570843145	chr11:25552571-25552572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10767400	chr11:25552594-25552595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530883593	chr11:25552597-25552598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543761955	chr11:25552646-25552647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558684977	chr11:25552650-25552651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577384595	chr11:25552675-25552676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541553378	chr11:25552703-25552704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10501012	chr11:25552727-25552728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575064420	chr11:25552747-25552748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11028757	chr11:25552751-25552752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535269984	chr11:25552802-25552803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73429546	chr11:25552866-25552867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs61897211	chr11:25552882-25552883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564747848	chr11:25552886-25552887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76161560	chr11:25552906-25552907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547071478	chr11:25552916-25552917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565487768	chr11:25552931-25552932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539926805	chr11:25552933-25552934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150715574	chr11:25552944-25552945	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25551200-25552200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:25552200-25553400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:25556200-25558200	Enhancers	Fetal Lung	lung
4	chr11:25556600-25558200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:25556800-25558200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:25557200-25557400	Enhancers	Ovary	ovary
7	chr11:25557200-25557600	Enhancers	Adipose Nuclei	Adipose
8	chr11:25557200-25557600	Enhancers	Fetal Muscle Leg	muscle
9	chr11:25557200-25558200	Enhancers	Fetal Stomach	stomach
10	chr11:25557400-25558000	Enhancers	Brain Germinal Matrix	brain

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