Variant report

Variant	esv3425701
Chromosome Location	chr11:26310425-26330495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:26318716-26319063	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:26318726-26319135	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr11:26318709-26319152	A549	lung:	n/a	n/a
4	CEBPB	chr11:26314130-26314475	HepG2	liver:	n/a	chr11:26314299-26314310
5	CEBPB	chr11:26314271-26314450	Hela-S3	cervix:	n/a	chr11:26314299-26314310
6	CEBPB	chr11:26318718-26319129	MCF-7	breast:	n/a	n/a
7	CEBPB	chr11:26328750-26329034	HepG2	liver:	n/a	chr11:26328851-26328862
8	CEBPB	chr11:26318763-26319084	A549	lung:	n/a	n/a
9	CEBPB	chr11:26318770-26319119	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:26318816-26319138	MCF-7	breast:	n/a	n/a
11	CEBPB	chr11:26328835-26328926	Hela-S3	cervix:	n/a	chr11:26328851-26328862
12	CEBPB	chr11:26318785-26319456	IMR90	lung:	n/a	n/a
13	CEBPB	chr11:26318797-26319079	K562	blood:	n/a	n/a
14	CEBPB	chr11:26316046-26316248	HepG2	liver:	n/a	n/a
15	CEBPB	chr11:26318815-26319084	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr11:26314230-26314461	A549	lung:	n/a	chr11:26314299-26314310
17	CEBPB	chr11:26318734-26319151	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr11:26328741-26328964	A549	lung:	n/a	chr11:26328851-26328862
19	CEBPB	chr11:26328728-26328977	IMR90	lung:	n/a	chr11:26328851-26328862
20	CTCF	chr11:26318820-26318970	NB4	blood:	n/a	n/a
21	CTCF	chr11:26318698-26319110	IMR90	lung:	n/a	n/a
22	CTCF	chr11:26318460-26318610	AG10803	skin:	n/a	n/a
23	CTCF	chr11:26318769-26319124	A549	lung:	n/a	n/a
24	CTCF	chr11:26318749-26319044	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr11:26318840-26318990	HMF	breast:	n/a	n/a
26	CTCF	chr11:26318774-26319029	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr11:26318860-26319010	GM12875	blood:	n/a	n/a
28	CTCF	chr11:26318820-26318970	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr11:26318776-26319007	GM10266	blood:	n/a	n/a
30	CTCF	chr11:26318820-26318970	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr11:26318782-26318995	GM10248	blood:	n/a	n/a
32	CTCF	chr11:26318800-26318950	HL-60	blood:	n/a	n/a
33	CTCF	chr11:26318847-26319016	ProgFib	skin:	n/a	n/a
34	CTCF	chr11:26318803-26318973	GM13976	blood:	n/a	n/a
35	CTCF	chr11:26318820-26318970	AG10803	skin:	n/a	n/a
36	CTCF	chr11:26318794-26319046	A549	lung:	n/a	n/a
37	CTCF	chr11:26318780-26318930	HCM	heart:	n/a	n/a
38	CTCF	chr11:26318840-26318990	HPF	lung:	n/a	n/a
39	CTCF	chr11:26318840-26318990	GM12873	blood:	n/a	n/a
40	CTCF	chr11:26318840-26318990	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr11:26318784-26319002	K562	blood:	n/a	n/a
42	CTCF	chr11:26318800-26318950	GM12870	blood:	n/a	n/a
43	CTCF	chr11:26318840-26318990	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr11:26318880-26319030	HAc	cerebellar:	n/a	n/a
45	CTCF	chr11:26318770-26319032	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr11:26318800-26318950	GM12868	blood:	n/a	n/a
47	CTCF	chr11:26318840-26318990	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr11:26318805-26319019	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:26318773-26319002	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr11:26318820-26318970	NHEK	skin:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:26318438..26319350-chr11:26670793..26671982,7	MCF-7	breast:
2	chr11:26318636..26319225-chr11:26543911..26544770,2	MCF-7	breast:
3	chr11:26317426..26320174-chr11:26322720..26325087,2	K562	blood:
4	chr11:26317426..26320174-chr11:26322720..26325087,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254819	TF binding region
ANO3	TF binding region

Extended variants
information (count: 200 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112595890	chr11:26310732-26310733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545373989	chr11:26310737-26310738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530917382	chr11:26310762-26310763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537495255	chr11:26314143-26314144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555076424	chr11:26314180-26314181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559101593	chr11:26314201-26314202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570824703	chr11:26314210-26314211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373078842	chr11:26314292-26314293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs11820185	chr11:26314310-26314311	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535361254	chr11:26314335-26314336	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2199377	chr11:26314377-26314378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10767517	chr11:26314385-26314386	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542547722	chr11:26314421-26314422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs557229052	chr11:26314429-26314430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs191378014	chr11:26314432-26314433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543082901	chr11:26314440-26314441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs552248868	chr11:26314455-26314456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532105546	chr11:26314456-26314457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs374625559	chr11:26314457-26314458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113497194	chr11:26318607-26318608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565441335	chr11:26318637-26318638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11029501	chr11:26318643-26318644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563583778	chr11:26318685-26318686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200208606	chr11:26318728-26318729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377447870	chr11:26318731-26318732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375949631	chr11:26318732-26318733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113715149	chr11:26318733-26318734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548603015	chr11:26318736-26318737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370852766	chr11:26318759-26318760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374294641	chr11:26318792-26318793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546290246	chr11:26318793-26318794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148736760	chr11:26318800-26318801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61877709	chr11:26318803-26318804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143003159	chr11:26318854-26318855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116610992	chr11:26318879-26318880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182418398	chr11:26318881-26318882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142897974	chr11:26318898-26318899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373116963	chr11:26318912-26318913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185276105	chr11:26318927-26318928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117108055	chr11:26318957-26318958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16915436	chr11:26318959-26318960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553969218	chr11:26318985-26318986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16915437	chr11:26319052-26319053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536800034	chr11:26319077-26319078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11029502	chr11:26319096-26319097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573084384	chr11:26319143-26319144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117776857	chr11:26319148-26319149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79748894	chr11:26319160-26319161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558646155	chr11:26319228-26319229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117803679	chr11:26319240-26319241	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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	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
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26318600-26319600	Enhancers	Fetal Lung	lung
2	chr11:26318800-26319400	Enhancers	Fetal Kidney	kidney
3	chr11:26319000-26319400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:26319000-26319400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:26319000-26319400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:26319000-26319400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:26319000-26319600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:26324600-26325000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:26324600-26325000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:26328000-26328400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:26328400-26337600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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