Variant report

Variant	esv3382764
Chromosome Location	chr11:93792354-93794452
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	chr11:93792254-93792598	K562	blood:	n/a	chr11:93792416-93792427
2	CEBPB	chr11:93792392-93792470	H1-hESC	embryonic stem cell:	n/a	chr11:93792416-93792427
3	CEBPB	chr11:93792264-93792594	IMR90	lung:	n/a	chr11:93792416-93792427
4	CEBPB	chr11:93792246-93792559	HepG2	liver:	n/a	chr11:93792416-93792427
5	CEBPB	chr11:93793593-93793911	IMR90	lung:	n/a	n/a
6	CEBPB	chr11:93792267-93792587	A549	lung:	n/a	chr11:93792416-93792427
7	CTCF	chr11:93794160-93794310	NHEK	skin:	n/a	n/a
8	FOS	chr11:93791883-93792464	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:93793595-93793869	MCF10A-Er-Src	breast:	n/a	chr11:93793846-93793858
10	FOS	chr11:93793529-93793929	MCF10A-Er-Src	breast:	n/a	chr11:93793846-93793858
11	STAT3	chr11:93794161-93794202	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr11:93793562-93793840	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93790115..93792446-chr11:93795397..93797125,2	K562	blood:
2	chr11:93792129..93794478-chr11:93795523..93798448,3	K562	blood:

Variant related genes	Relation type
ENSG00000227593	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375230830	chr11:93792404-93792405	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535716565	chr11:93792432-93792433	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553720023	chr11:93792433-93792434	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs112344155	chr11:93792464-93792465	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs983329	chr11:93792471-93792472	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565883911	chr11:93792501-93792502	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186595101	chr11:93792636-93792637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34139237	chr11:93792652-93792653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558286762	chr11:93792661-93792662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576567907	chr11:93792713-93792714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190770397	chr11:93792719-93792720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111294307	chr11:93792759-93792760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374306565	chr11:93792775-93792776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367861333	chr11:93792819-93792820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11020644	chr11:93792858-93792859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553657927	chr11:93792859-93792860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574281263	chr11:93792875-93792876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573200194	chr11:93792888-93792889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541724792	chr11:93792901-93792902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs983328	chr11:93792937-93792938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs983327	chr11:93792947-93792948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138429645	chr11:93793026-93793027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2460043	chr11:93793064-93793065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531301957	chr11:93793104-93793105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183014624	chr11:93793106-93793107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2460042	chr11:93793135-93793136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs368083406	chr11:93793206-93793207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369505196	chr11:93793225-93793226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369866058	chr11:93793260-93793261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201609757	chr11:93793296-93793297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112450930	chr11:93793315-93793316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528849924	chr11:93793323-93793324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547692493	chr11:93793345-93793346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565789962	chr11:93793381-93793382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191153359	chr11:93793392-93793393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199942339	chr11:93793402-93793403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554155514	chr11:93793418-93793419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570346265	chr11:93793419-93793420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569747456	chr11:93793437-93793438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1518558	chr11:93793440-93793441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572779119	chr11:93793451-93793452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112396301	chr11:93793460-93793461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570213100	chr11:93793462-93793463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369152736	chr11:93793469-93793470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116249419	chr11:93793483-93793484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573998949	chr11:93793486-93793487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369143183	chr11:93793520-93793521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534661662	chr11:93793567-93793568	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs1518557	chr11:93793577-93793578	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571008719	chr11:93793591-93793592	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	18852474	CNVD
Breast cancer	22844521	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93780200-93793800	Weak transcription	Fetal Intestine Large	intestine
2	chr11:93789200-93793800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:93789200-93793800	Weak transcription	Aorta	Aorta
4	chr11:93791400-93794800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:93791400-93794800	Enhancers	NHEK	skin
6	chr11:93791600-93792600	Enhancers	HMEC	breast
7	chr11:93791800-93793600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:93792600-93793600	Weak transcription	HMEC	breast
9	chr11:93793600-93794800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:93793600-93794800	Enhancers	HMEC	breast
11	chr11:93793800-93794600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:93793800-93794600	ZNF genes & repeats	Aorta	Aorta
13	chr11:93793800-93794600	Enhancers	Fetal Intestine Large	intestine
14	chr11:93794200-93794600	Enhancers	Fetal Intestine Small	intestine

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