Variant report

Variant	esv1811560
Chromosome Location	chr11:24285000-24324926
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	chr11:24286473-24286785	Hela-S3	cervix:	n/a	chr11:24286614-24286625
2	CEBPB	chr11:24286473-24286778	K562	blood:	n/a	chr11:24286614-24286625
3	CEBPB	chr11:24319718-24319918	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:24286432-24286807	IMR90	lung:	n/a	chr11:24286614-24286625
5	CEBPB	chr11:24308521-24308827	HepG2	liver:	n/a	chr11:24308663-24308676 chr11:24308665-24308676 chr11:24308663-24308674 chr11:24308663-24308676
6	CEBPB	chr11:24319704-24320025	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:24286441-24286782	HepG2	liver:	n/a	chr11:24286614-24286625
8	CEBPB	chr11:24299076-24299370	IMR90	lung:	n/a	chr11:24299202-24299213
9	CEBPB	chr11:24299149-24299349	HepG2	liver:	n/a	chr11:24299202-24299213
10	CEBPB	chr11:24286490-24286757	A549	lung:	n/a	chr11:24286614-24286625
11	CEBPB	chr11:24308545-24308811	K562	blood:	n/a	chr11:24308663-24308676 chr11:24308665-24308676 chr11:24308663-24308674 chr11:24308663-24308676
12	CEBPB	chr11:24286523-24286771	H1-hESC	embryonic stem cell:	n/a	chr11:24286614-24286625
13	CEBPB	chr11:24312913-24313010	A549	lung:	n/a	chr11:24312961-24312974
14	CTCF	chr11:24294600-24294750	Caco-2	colon:	n/a	n/a
15	CTCF	chr11:24302249-24302295	LNCaP	prostate:	n/a	n/a
16	CTCF	chr11:24309606-24309658	ProgFib	skin:	n/a	n/a
17	E2F4	chr11:24307775-24308021	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr11:24293473-24293634	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr11:24293076-24293881	SK-N-SH	brain:	n/a	chr11:24293718-24293727
20	EP300	chr11:24319108-24319312	SK-N-SH_RA	brain:	n/a	n/a
21	FAM48A	chr11:24306931-24307003	GM12878	blood:	n/a	n/a
22	FOS	chr11:24286556-24286734	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:24319749-24319969	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXP2	chr11:24323760-24324095	PFSK-1	brain:	n/a	n/a
25	GATA2	chr11:24293373-24293708	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr11:24293268-24293743	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr11:24319638-24319838	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr11:24309946-24310092	SH-SY5Y	brain:	n/a	n/a
29	HEY1	chr11:24295228-24295363	HepG2	liver:	n/a	n/a
30	JUN	chr11:24294418-24294540	K562	blood:	n/a	n/a
31	JUND	chr11:24286486-24286770	HepG2	liver:	n/a	n/a
32	JUND	chr11:24286549-24286605	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr11:24288656-24288870	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr11:24309444-24309458	H1-hESC	embryonic stem cell:	n/a	n/a
35	NFYB	chr11:24295174-24295547	K562	blood:	n/a	n/a
36	NFYB	chr11:24295176-24295540	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:24316676-24316782	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:24288581-24288891	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr11:24307635-24307835	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:24313494-24313694	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:24291656-24291797	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:24285323-24285505	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:24321284-24321458	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:24300168-24300233	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:24314300-24314343	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:24320332-24320340	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:24319002-24319284	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr11:24315443-24315534	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:24315751-24315912	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:24319788-24319951	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:24319272..24319809-chr11:88668263..88668763,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254594	TF binding region

Extended variants
information (count: 706 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147724305	chr11:24285013-24285014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557827542	chr11:24285035-24285036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576093786	chr11:24285041-24285042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181753216	chr11:24285052-24285053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199627030	chr11:24285107-24285108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534914709	chr11:24285134-24285135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11825384	chr11:24285137-24285138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs142511051	chr11:24285146-24285147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186919836	chr11:24285271-24285272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557424189	chr11:24285302-24285303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574180515	chr11:24285315-24285316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144932900	chr11:24285328-24285329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs147967006	chr11:24285373-24285374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs149005810	chr11:24285382-24285383	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs114459323	chr11:24285466-24285467	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565152361	chr11:24285468-24285469	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs530749853	chr11:24285469-24285470	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550139635	chr11:24285482-24285483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs560595609	chr11:24285510-24285511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75559464	chr11:24285585-24285586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546249062	chr11:24285670-24285671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566447835	chr11:24285715-24285716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76748870	chr11:24285765-24285766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551696929	chr11:24285774-24285775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143669884	chr11:24285814-24285815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537790940	chr11:24285838-24285839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189813472	chr11:24285840-24285841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574044781	chr11:24285981-24285982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536653017	chr11:24285986-24285987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375037700	chr11:24285996-24285997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559936623	chr11:24286012-24286013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116197273	chr11:24286076-24286077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573271973	chr11:24286084-24286085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16912350	chr11:24286117-24286118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548802514	chr11:24286186-24286187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12790279	chr11:24286221-24286222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563785828	chr11:24286225-24286226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12791360	chr11:24286239-24286240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148082517	chr11:24286255-24286256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551325237	chr11:24286264-24286265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560857830	chr11:24286293-24286294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529595758	chr11:24286303-24286304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538711414	chr11:24286332-24286333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76571775	chr11:24286425-24286426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549325545	chr11:24286431-24286432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560156103	chr11:24286481-24286482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs16912353	chr11:24286512-24286513	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs369650965	chr11:24286527-24286528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs78046699	chr11:24286539-24286540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs80192131	chr11:24286546-24286547	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24275400-24288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:24288000-24288600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr11:24288200-24288600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:24295800-24296200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:24307000-24309800	Enhancers	Dnd41	blood
6	chr11:24309600-24310800	Enhancers	Fetal Stomach	stomach
7	chr11:24309800-24315400	Weak transcription	Dnd41	blood
8	chr11:24310000-24310400	Enhancers	HUVEC	blood vessel
9	chr11:24310400-24310600	Flanking Active TSS	HUVEC	blood vessel
10	chr11:24310600-24310800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr11:24310600-24310800	Enhancers	HUVEC	blood vessel
12	chr11:24310800-24311000	Flanking Active TSS	HUVEC	blood vessel
13	chr11:24310800-24316800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:24311000-24311600	Enhancers	HUVEC	blood vessel
15	chr11:24313000-24313200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:24315400-24315600	Enhancers	Dnd41	blood
17	chr11:24315600-24316800	Weak transcription	Dnd41	blood
18	chr11:24316800-24317000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr11:24316800-24317200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:24316800-24317200	Flanking Active TSS	Dnd41	blood
21	chr11:24317000-24317200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:24317000-24317400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:24317000-24317800	Enhancers	Fetal Heart	heart
24	chr11:24317000-24317800	Enhancers	Small Intestine	intestine
25	chr11:24317200-24317800	Active TSS	Dnd41	blood
26	chr11:24319600-24320000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr11:24323800-24324200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:24323800-24324200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:24324200-24331600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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