Variant report

Variant	esv2757430
Chromosome Location	chr11:25088712-25322598
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	BHLHE40	chr11:25158684-25158720	GM12878	blood:	n/a	n/a
2	CCNT2	chr11:25320905-25321211	K562	blood:	n/a	n/a
3	CEBPB	chr11:25188854-25189090	IMR90	lung:	n/a	n/a
4	CEBPB	chr11:25249191-25249468	A549	lung:	n/a	chr11:25249291-25249302 chr11:25249341-25249352
5	CEBPB	chr11:25260335-25260619	K562	blood:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
6	CEBPB	chr11:25177091-25177445	IMR90	lung:	n/a	chr11:25177249-25177260
7	CEBPB	chr11:25316983-25317448	IMR90	lung:	n/a	chr11:25317135-25317146
8	CEBPB	chr11:25320004-25320361	HepG2	liver:	n/a	chr11:25320182-25320193
9	CEBPB	chr11:25282831-25283170	HepG2	liver:	n/a	chr11:25282993-25283004
10	CEBPB	chr11:25322407-25322509	HepG2	liver:	n/a	n/a
11	CEBPB	chr11:25316988-25317332	A549	lung:	n/a	chr11:25317135-25317146
12	CEBPB	chr11:25282883-25283144	A549	lung:	n/a	chr11:25282993-25283004
13	CEBPB	chr11:25115693-25115948	HepG2	liver:	n/a	n/a
14	CEBPB	chr11:25260375-25260618	H1-hESC	embryonic stem cell:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
15	CEBPB	chr11:25249153-25249491	HepG2	liver:	n/a	chr11:25249291-25249302 chr11:25249341-25249352
16	CEBPB	chr11:25159359-25159440	K562	blood:	n/a	chr11:25159402-25159413
17	CEBPB	chr11:25115739-25115908	HepG2	liver:	n/a	n/a
18	CEBPB	chr11:25317005-25317377	Hela-S3	cervix:	n/a	chr11:25317135-25317146
19	CEBPB	chr11:25320034-25320331	A549	lung:	n/a	chr11:25320182-25320193
20	CEBPB	chr11:25317085-25317365	H1-hESC	embryonic stem cell:	n/a	chr11:25317135-25317146
21	CEBPB	chr11:25172862-25173040	HepG2	liver:	n/a	n/a
22	CEBPB	chr11:25268863-25269216	IMR90	lung:	n/a	n/a
23	CEBPB	chr11:25141777-25142021	A549	lung:	n/a	chr11:25141910-25141921
24	CEBPB	chr11:25249177-25249441	Hela-S3	cervix:	n/a	chr11:25249291-25249302 chr11:25249341-25249352
25	CEBPB	chr11:25260319-25260646	A549	lung:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
26	CEBPB	chr11:25316988-25317320	HepG2	liver:	n/a	chr11:25317135-25317146
27	CEBPB	chr11:25172819-25173060	A549	lung:	n/a	n/a
28	CEBPB	chr11:25177141-25177337	HepG2	liver:	n/a	chr11:25177249-25177260
29	CEBPB	chr11:25233534-25233873	MCF-7	breast:	n/a	n/a
30	CEBPB	chr11:25264968-25265055	A549	lung:	n/a	chr11:25265038-25265049
31	CEBPB	chr11:25201759-25202090	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr11:25320010-25320354	Hela-S3	cervix:	n/a	chr11:25320182-25320193
33	CEBPB	chr11:25320002-25320364	IMR90	lung:	n/a	chr11:25320182-25320193
34	CEBPB	chr11:25177118-25177349	Hela-S3	cervix:	n/a	chr11:25177249-25177260
35	CEBPB	chr11:25260341-25260634	IMR90	lung:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
36	CEBPB	chr11:25320902-25320977	HepG2	liver:	n/a	chr11:25320927-25320938
37	CEBPB	chr11:25249166-25249456	IMR90	lung:	n/a	chr11:25249291-25249302 chr11:25249341-25249352
38	CEBPB	chr11:25320044-25320317	H1-hESC	embryonic stem cell:	n/a	chr11:25320182-25320193
39	CEBPB	chr11:25141454-25142097	IMR90	lung:	n/a	chr11:25141910-25141921
40	CEBPB	chr11:25177148-25177437	K562	blood:	n/a	chr11:25177249-25177260
41	CEBPB	chr11:25177140-25177395	A549	lung:	n/a	chr11:25177249-25177260
42	CEBPB	chr11:25141770-25142081	HepG2	liver:	n/a	chr11:25141910-25141921
43	CEBPB	chr11:25260309-25260634	HepG2	liver:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
44	CEBPB	chr11:25141487-25142080	Hela-S3	cervix:	n/a	chr11:25141910-25141921
45	CEBPB	chr11:25233440-25233847	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr11:25317003-25317327	K562	blood:	n/a	chr11:25317135-25317146
47	CEBPB	chr11:25320045-25320349	K562	blood:	n/a	chr11:25320182-25320193
48	CHD2	chr11:25233320-25233685	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr11:25152740-25152890	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr11:25126821-25126900	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
2	chr11:25196548..25198799-chr11:25203562..25205354,2	MCF-7	breast:
3	chr11:25259471..25259991-chr8:43092431..43093431,2	MCF-7	breast:
4	chr11:25196548..25198799-chr11:25203562..25205354,2	MCF-7	breast:
5	chr11:25183407..25185037-chr11:25191634..25194000,2	K562	blood:
6	chr11:25183407..25185037-chr11:25191634..25194000,2	K562	blood:
7	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
8	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
9	chr11:25259489..25259989-chr8:43095397..43095932,2	MCF-7	breast:
10	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
11	chr11:25259471..25260471-chr3:74708453..74709453,2	MCF-7	breast:
12	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
13	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
14	chr11:25258490..25261471-chr8:43091396..43094700,3	MCF-7	breast:
15	chr11:25258471..25259991-chr8:43093202..43096075,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255368	TF binding region

Extended variants
information (count: 934 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1838773	chr11:25088712-25088713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556504547	chr11:25088740-25088741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139378802	chr11:25088748-25088749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185024107	chr11:25088776-25088777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575311670	chr11:25088781-25088782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544336030	chr11:25088783-25088784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530465067	chr11:25088854-25088855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575007240	chr11:25088937-25088938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574789575	chr11:25088970-25088971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540627818	chr11:25088975-25088976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560147144	chr11:25088984-25088985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529694678	chr11:25089022-25089023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10767306	chr11:25089024-25089025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143338044	chr11:25089050-25089051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562702037	chr11:25089089-25089090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10767307	chr11:25089115-25089116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147525924	chr11:25089211-25089212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138299543	chr11:25089213-25089214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114141383	chr11:25089253-25089254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528672911	chr11:25089263-25089264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140984264	chr11:25089280-25089281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142005351	chr11:25089281-25089282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144814252	chr11:25089282-25089283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3992969	chr11:25089283-25089284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547381844	chr11:25089336-25089337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2197544	chr11:25089352-25089353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539345339	chr11:25089361-25089362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558711724	chr11:25089368-25089369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2197543	chr11:25089370-25089371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs118103816	chr11:25089371-25089372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554597046	chr11:25089385-25089386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574889149	chr11:25089399-25089400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189061710	chr11:25089424-25089425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181498916	chr11:25089455-25089456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561656903	chr11:25089532-25089533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557528707	chr11:25089543-25089544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141839194	chr11:25089578-25089579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371474232	chr11:25089653-25089654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186980775	chr11:25089704-25089705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562667243	chr11:25089719-25089720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531483988	chr11:25089720-25089721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117798428	chr11:25089766-25089767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2404022	chr11:25089780-25089781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527402568	chr11:25089799-25089800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529031007	chr11:25089801-25089802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550719402	chr11:25089819-25089820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547055491	chr11:25089825-25089826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2404023	chr11:25089859-25089860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114631602	chr11:25089895-25089896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552499387	chr11:25089896-25089897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25087000-25091200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:25088600-25090000	Weak transcription	NHEK	skin
3	chr11:25088600-25090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:25089800-25090600	Enhancers	HMEC	breast
5	chr11:25090000-25090600	Enhancers	NHEK	skin
6	chr11:25090200-25090600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:25115000-25115600	Enhancers	Liver	Liver
8	chr11:25115600-25115800	Flanking Active TSS	Liver	Liver
9	chr11:25115800-25116200	Enhancers	Liver	Liver
10	chr11:25176000-25176400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:25222600-25223400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:25222600-25223400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:25222600-25223400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:25222800-25223400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:25222800-25223600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:25222800-25223600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:25228400-25229000	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr11:25233000-25233800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:25233000-25234000	Enhancers	Hela-S3	cervix
20	chr11:25233000-25234000	Enhancers	NHEK	skin
21	chr11:25233200-25233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:25233200-25233600	Active TSS	Gastric	stomach
23	chr11:25233200-25233600	Enhancers	HMEC	breast
24	chr11:25233200-25233800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:25233200-25233800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:25233200-25233800	Enhancers	Esophagus	oesophagus
27	chr11:25233400-25233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:25239200-25240600	Enhancers	Fetal Heart	heart
29	chr11:25252400-25252600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
30	chr11:25252600-25253600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:25264400-25265200	Enhancers	NHEK	skin
32	chr11:25264600-25265000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:25264800-25265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:25286600-25287000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:25286600-25287000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr11:25302400-25303000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:25312400-25314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:25313600-25313800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:25313800-25322800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:25315000-25316400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:25321200-25321400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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