Variant report

Variant	esv3349514
Chromosome Location	chr11:64612991-64613263
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	ARID3A	chr11:64612570-64613035	K562	blood:	n/a	n/a
2	CBX3	chr11:64612556-64612992	K562	blood:	n/a	n/a
3	CBX3	chr11:64612437-64613312	K562	blood:	n/a	n/a
4	CEBPB	chr11:64613025-64613343	MCF-7	breast:	n/a	chr11:64613105-64613116
5	CEBPB	chr11:64612997-64613194	HepG2	liver:	n/a	chr11:64613105-64613116
6	CEBPB	chr11:64612987-64613238	A549	lung:	n/a	chr11:64613105-64613116
7	CEBPB	chr11:64612916-64613269	Hela-S3	cervix:	n/a	chr11:64613105-64613116
8	CEBPB	chr11:64612945-64613270	K562	blood:	n/a	chr11:64613105-64613116
9	CEBPB	chr11:64612890-64613305	K562	blood:	n/a	chr11:64613105-64613116
10	CEBPB	chr11:64612937-64613231	IMR90	lung:	n/a	chr11:64613105-64613116
11	CEBPB	chr11:64612946-64613238	HepG2	liver:	n/a	chr11:64613105-64613116
12	CEBPB	chr11:64613013-64613232	H1-hESC	embryonic stem cell:	n/a	chr11:64613105-64613116
13	CEBPD	chr11:64612998-64613167	HepG2	liver:	n/a	n/a
14	EGR1	chr11:64609532-64613051	HCT-116	colon:	n/a	chr11:64612331-64612345 chr11:64612625-64612638 chr11:64611848-64611862 chr11:64612626-64612635 chr11:64611849-64611862 chr11:64609645-64609669 chr11:64612339-64612349 chr11:64610407-64610420 chr11:64612333-64612342 chr11:64612326-64612348 chr11:64610410-64610420 chr11:64610407-64610421 chr11:64610407-64610420 chr11:64612330-64612343 chr11:64611849-64611862 chr11:64612625-64612638 chr11:64612331-64612342 chr11:64612620-64612630 chr11:64610409-64610419 chr11:64612330-64612343 chr11:64612329-64612344 chr11:64612330-64612343 chr11:64611849-64611862 chr11:64612558-64612582 chr11:64610410-64610419 chr11:64610407-64610420 chr11:64612625-64612638 chr11:64611849-64611859 chr11:64612332-64612342 chr11:64611850-64611859 chr11:64612283-64612297 chr11:64612330-64612344 chr11:64612624-64612639 chr11:64610799-64610810 chr11:64612623-64612633 chr11:64611849-64611862 chr11:64612299-64612313 chr11:64612332-64612342 chr11:64612330-64612343 chr11:64612324-64612333 chr11:64611850-64611860 chr11:64612625-64612638 chr11:64609549-64609558 chr11:64612625-64612635 chr11:64612624-64612638 chr11:64611846-64611860 chr11:64612333-64612343
15	ELF1	chr11:64612061-64613008	MCF-7	breast:	n/a	chr11:64612320-64612333 chr11:64612623-64612635 chr11:64612333-64612345
16	JUN	chr11:64610378-64613378	K562	blood:	n/a	chr11:64610673-64610685 chr11:64611168-64611178 chr11:64612256-64612265 chr11:64611169-64611177 chr11:64611168-64611178 chr11:64610675-64610684 chr11:64611169-64611177 chr11:64611865-64611874 chr11:64611169-64611176 chr11:64612621-64612630
17	JUND	chr11:64611888-64613144	K562	blood:	n/a	chr11:64612256-64612265 chr11:64612621-64612630
18	JUND	chr11:64612998-64613235	HepG2	liver:	n/a	n/a
19	MAFK	chr11:64612867-64613076	K562	blood:	n/a	n/a
20	MAX	chr11:64612499-64613165	K562	blood:	n/a	n/a
21	MAZ	chr11:64611539-64613057	IMR90	lung:	n/a	n/a
22	MXI1	chr11:64612550-64613042	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr11:64612988-64613132	K562	blood:	n/a	n/a
24	NR2F2	chr11:64612335-64613304	K562	blood:	n/a	n/a
25	NR2F2	chr11:64612617-64613256	K562	blood:	n/a	n/a
26	POLR2A	chr11:64610422-64613121	K562	blood:	n/a	n/a
27	POLR2A	chr11:64612631-64613001	HCT-116	colon:	n/a	n/a
28	POLR2A	chr11:64611205-64613089	K562	blood:	n/a	n/a
29	RCOR1	chr11:64612512-64613325	IMR90	lung:	n/a	n/a
30	RCOR1	chr11:64611833-64613061	K562	blood:	n/a	n/a
31	SIN3AK20	chr11:64609403-64613084	MCF-7	breast:	n/a	n/a
32	TCF12	chr11:64611508-64613018	ECC-1	luminal epithelium:	n/a	n/a
33	TCF12	chr11:64612246-64613038	ECC-1	luminal epithelium:	n/a	n/a
34	TCF7L2	chr11:64612773-64613164	PANC-1	pancreas:	n/a	chr11:64613013-64613022 chr11:64613010-64613024 chr11:64613012-64613021 chr11:64613009-64613025 chr11:64613011-64613021 chr11:64613009-64613025
35	TCF7L2	chr11:64612668-64613254	Hela-S3	cervix:	n/a	chr11:64613013-64613022 chr11:64613010-64613024 chr11:64613012-64613021 chr11:64613009-64613025 chr11:64613011-64613021 chr11:64613009-64613025
36	TCF7L2	chr11:64612555-64613200	HCT-116	colon:	n/a	chr11:64613013-64613022 chr11:64613010-64613024 chr11:64613012-64613021 chr11:64613009-64613025 chr11:64613011-64613021 chr11:64613009-64613025
37	ZBTB7A	chr11:64612894-64613187	K562	blood:	n/a	n/a
38	ZEB1	chr11:64611211-64613047	HepG2	liver:	n/a	chr11:64612242-64612251
39	ZNF384	chr11:64612501-64613269	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64613019..64614762-chr11:64839804..64841989,2	K562	blood:
2	chr11:64612078..64613725-chr11:64876395..64879277,2	K562	blood:
3	chr11:64612059..64614738-chr11:64932959..64934868,2	K562	blood:
4	chr11:64575754..64580490-chr11:64608432..64614008,12	MCF-7	breast:
5	chr11:64610442..64614915-chr11:64882306..64888577,8	K562	blood:
6	chr11:64611788..64615884-chr11:64889092..64892306,4	K562	blood:
7	chr11:64609572..64613469-chr11:64883335..64886835,8	MCF-7	breast:
8	chr11:64613204..64616194-chr11:64878218..64881658,6	MCF-7	breast:
9	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
10	chr11:64612077..64613649-chr11:64793534..64795041,2	K562	blood:
11	chr11:64611161..64616461-chr11:64883590..64887057,5	K562	blood:
12	chr11:64568489..64574764-chr11:64609155..64613913,19	MCF-7	breast:
13	chr11:64569062..64575536-chr11:64608720..64614805,15	MCF-7	breast:
14	chr11:64574843..64581404-chr11:64607394..64613763,11	MCF-7	breast:
15	chr11:64544026..64547354-chr11:64610476..64614597,11	MCF-7	breast:
16	chr11:64611277..64614890-chr11:65264545..65267684,3	K562	blood:
17	chr11:64611858..64613691-chr11:64937445..64939310,2	K562	blood:
18	chr11:64543744..64547403-chr11:64610118..64615032,5	K562	blood:
19	chr11:64607104..64613028-chr11:64878466..64882720,9	MCF-7	breast:
20	chr11:64543433..64548261-chr11:64608025..64614805,12	MCF-7	breast:
21	chr11:64607780..64614825-chr11:64861884..64865172,9	MCF-7	breast:
22	chr11:64613057..64614829-chr11:64806850..64808969,2	K562	blood:
23	chr11:64568677..64572675-chr11:64611050..64613930,4	K562	blood:
24	chr11:64612131..64614344-chr11:64949273..64950792,2	K562	blood:
25	chr11:64571014..64575800-chr11:64609684..64614421,7	K562	blood:
26	chr11:64601267..64604477-chr11:64610068..64613369,3	K562	blood:
27	chr11:64610673..64614254-chr11:64900941..64904149,4	MCF-7	breast:

Variant related genes	Relation type
CDC42BPG	TF binding region
ENSG00000269038	chromatin interactions
ENSG00000174276	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000255173	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000133895	chromatin interactions
ENSG00000149792	chromatin interactions
ENSG00000168067	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000270775	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000204710	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000014216	chromatin interactions
ENSG00000110025	chromatin interactions
ENSG00000168061	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000254614	chromatin interactions
ENSG00000171219	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528785567	chr11:64613005-64613006	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
2	rs480455	chr11:64613023-64613024	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
3	rs145505340	chr11:64613027-64613028	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
4	rs35938015	chr11:64613032-64613033	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34928379	chr11:64613051-64613052	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
6	rs57318379	chr11:64613052-64613053	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs397957996	chr11:64613069-64613070	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
8	rs568644117	chr11:64613078-64613079	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs4930683	chr11:64613110-64613111	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556977830	chr11:64613149-64613150	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
11	rs570359552	chr11:64613196-64613197	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
12	rs368675931	chr11:64613243-64613244	Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64611000-64613000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:64611200-64613000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:64611600-64613000	Enhancers	NHLF	lung
4	chr11:64611800-64613000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:64611800-64614800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:64611800-64614800	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:64611800-64618400	Weak transcription	HSMM	muscle
8	chr11:64611800-64619200	Weak transcription	HSMMtube	muscle
9	chr11:64611800-64620800	Weak transcription	HUVEC	blood vessel
10	chr11:64611800-64621200	Weak transcription	Fetal Heart	heart
11	chr11:64612200-64613000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:64612200-64614800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:64612400-64613000	Enhancers	Spleen	Spleen
14	chr11:64612400-64613000	Flanking Active TSS	Hela-S3	cervix
15	chr11:64612400-64613200	Enhancers	Stomach Mucosa	stomach
16	chr11:64612400-64619400	Weak transcription	Aorta	Aorta
17	chr11:64612600-64613000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:64612600-64613000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:64612600-64613000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:64612600-64613000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr11:64612600-64613000	Enhancers	Primary B cells from cord blood	blood
22	chr11:64612600-64613000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr11:64612600-64613000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:64612600-64613000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:64612600-64613000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:64612600-64613000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:64612600-64613000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:64612600-64613000	Enhancers	Adipose Nuclei	Adipose
29	chr11:64612600-64613000	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:64612600-64613000	Enhancers	Fetal Muscle Leg	muscle
31	chr11:64612600-64613000	Flanking Active TSS	Pancreas	Pancrea
32	chr11:64612600-64613000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr11:64612600-64613000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:64612600-64613000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:64612600-64613000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr11:64612600-64613000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:64612600-64613000	Enhancers	A549	lung
38	chr11:64612600-64613000	Enhancers	GM12878-XiMat	blood
39	chr11:64612600-64613000	Flanking Active TSS	HepG2	liver
40	chr11:64612600-64613000	Flanking Active TSS	K562	blood
41	chr11:64612600-64613000	Flanking Active TSS	NHEK	skin
42	chr11:64612600-64613400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:64612600-64614200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:64612600-64614400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:64612600-64614800	Weak transcription	Gastric	stomach
46	chr11:64612600-64614800	Weak transcription	Psoas Muscle	Psoas
47	chr11:64612600-64614800	Weak transcription	Right Atrium	heart
48	chr11:64612600-64617200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:64612600-64618600	Weak transcription	NH-A	brain
50	chr11:64612600-64619000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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