Variant report

Variant	esv3430132
Chromosome Location	chr11:62310961-62311401
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	BCL3	chr11:62309863-62311277	A549	lung:	n/a	chr11:62310548-62310557 chr11:62310096-62310105
2	BHLHE40	chr11:62310232-62311008	K562	blood:	n/a	chr11:62310551-62310567
3	BRCA1	chr11:62310808-62310975	HepG2	liver:	n/a	n/a
4	CBX3	chr11:62310151-62311068	K562	blood:	n/a	n/a
5	CHD1	chr11:62310213-62311032	GM12878	blood:	n/a	n/a
6	CHD1	chr11:62310053-62311668	IMR90	lung:	n/a	n/a
7	CTCF	chr11:62310900-62311050	BJ	skin:	n/a	chr11:62311025-62311034
8	CTCF	chr11:62310225-62310990	GM12892	blood:	n/a	n/a
9	CTCF	chr11:62310880-62311030	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr11:62311040-62311190	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr11:62309885-62311032	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr11:62311120-62311270	AG04449	skin:	n/a	n/a
13	CTCF	chr11:62310940-62311090	GM12867	blood:	n/a	chr11:62311025-62311034
14	CTCF	chr11:62310820-62310970	SAEC	small airway:	n/a	n/a
15	CTCF	chr11:62310133-62311027	GM12878	blood:	n/a	n/a
16	CTCF	chr11:62311180-62311330	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr11:62310169-62311011	HCT-116	colon:	n/a	n/a
18	CTCF	chr11:62310880-62311030	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr11:62310820-62310970	HRE	kidney:	n/a	n/a
20	CTCF	chr11:62310191-62310964	K562	blood:	n/a	n/a
21	CTCF	chr11:62309847-62311112	HCT-116	colon:	n/a	chr11:62311025-62311034 chr11:62309864-62309873
22	CTCF	chr11:62310735-62311009	K562	blood:	n/a	n/a
23	CTCF	chr11:62309965-62311207	A549	lung:	n/a	chr11:62311025-62311034
24	CTCF	chr11:62310074-62311089	K562	blood:	n/a	chr11:62311025-62311034
25	EBF1	chr11:62310210-62311296	GM12878	blood:	n/a	n/a
26	EP300	chr11:62310782-62310989	GM12878	blood:	n/a	chr11:62310899-62310906
27	EP300	chr11:62310784-62311091	GM12878	blood:	n/a	chr11:62310899-62310906
28	FOS	chr11:62310733-62311063	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr11:62310752-62310976	MCF10A-Er-Src	breast:	n/a	n/a
30	JUN	chr11:62309914-62311556	K562	blood:	n/a	n/a
31	JUND	chr11:62310135-62311009	K562	blood:	n/a	n/a
32	MAFK	chr11:62310235-62310964	K562	blood:	n/a	n/a
33	MAX	chr11:62309970-62316873	A549	lung:	n/a	chr11:62312136-62312143 chr11:62313404-62313414 chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62315029-62315039 chr11:62311094-62311104 chr11:62316366-62316375
34	MAX	chr11:62310245-62311016	Hela-S3	cervix:	n/a	chr11:62310437-62310446
35	MAX	chr11:62310131-62311235	K562	blood:	n/a	chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62311094-62311104
36	MAX	chr11:62310173-62311067	NB4	blood:	n/a	chr11:62310437-62310446
37	MAX	chr11:62310132-62311411	A549	lung:	n/a	chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62311094-62311104
38	MAX	chr11:62310115-62311690	MCF-7	breast:	n/a	chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62311094-62311104
39	MAZ	chr11:62309657-62311635	IMR90	lung:	n/a	chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62311094-62311104
40	MAZ	chr11:62310103-62310972	K562	blood:	n/a	chr11:62310437-62310446
41	MAZ	chr11:62310177-62310969	Hela-S3	cervix:	n/a	chr11:62310437-62310446
42	MTA3	chr11:62309826-62311092	GM12878	blood:	n/a	n/a
43	MXI1	chr11:62310243-62311043	GM12878	blood:	n/a	n/a
44	MXI1	chr11:62309801-62316378	IMR90	lung:	n/a	chr11:62311094-62311103 chr11:62311096-62311105
45	MYBL2	chr11:62310222-62311027	HepG2	liver:	n/a	n/a
46	MYC	chr11:62311210-62311220	HUVEC	blood vessel:	n/a	n/a
47	MYC	chr11:62310179-62310967	NB4	blood:	n/a	chr11:62310437-62310446
48	MYC	chr11:62311254-62311319	HUVEC	blood vessel:	n/a	n/a
49	MYC	chr11:62311327-62311328	HUVEC	blood vessel:	n/a	n/a
50	MYC	chr11:62311173-62311179	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62310701..62316525-chr11:62336307..62345701,21	MCF-7	breast:
2	chr11:62310730..62313122-chr11:62436444..62438934,2	MCF-7	breast:
3	chr11:62196161..62199633-chr11:62307876..62311334,4	MCF-7	breast:
4	chr11:62191888..62192838-chr11:62309887..62311003,10	K562	blood:
5	chr11:62280741..62283276-chr11:62309446..62312033,2	MCF-7	breast:
6	chr11:62201060..62204004-chr11:62310651..62312610,2	MCF-7	breast:
7	chr11:62272391..62274377-chr11:62310109..62312238,2	MCF-7	breast:
8	chr11:62310601..62311437-chr11:62461858..62462386,2	K562	blood:
9	chr11:62310047..62312919-chr11:62648924..62650473,2	K562	blood:
10	chr11:62193890..62196076-chr11:62309053..62312016,2	MCF-7	breast:
11	chr11:62310407..62313306-chr11:62606623..62609508,2	MCF-7	breast:
12	chr11:62263893..62266128-chr11:62309249..62311326,26	MCF-7	breast:
13	chr11:62191932..62192983-chr11:62310101..62311482,6	MCF-7	breast:
14	chr11:62274579..62277992-chr11:62305357..62311305,7	MCF-7	breast:
15	chr11:62309955..62311757-chr11:62327769..62328678,8	MCF-7	breast:
16	chr11:62310191..62312888-chr11:62358804..62361545,2	MCF-7	breast:
17	chr11:62307451..62310157-chr11:62311156..62312735,2	K562	blood:
18	chr11:62162599..62165168-chr11:62309068..62312004,2	K562	blood:
19	chr11:62161985..62164172-chr11:62309731..62311839,2	MCF-7	breast:
20	chr11:62249543..62252001-chr11:62311288..62312995,2	MCF-7	breast:
21	chr11:62189906..62192310-chr11:62310087..62312285,3	K562	blood:
22	chr11:62162599..62164110-chr11:62310391..62312004,2	K562	blood:
23	chr11:62165780..62167539-chr11:62310095..62312002,2	K562	blood:
24	chr11:62263870..62269326-chr11:62305524..62310974,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257058	TF binding region
ENSG00000204922	chromatin interactions
ENSG00000168000	chromatin interactions
ENSG00000255446	chromatin interactions
ENSG00000255508	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000254772	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000149016	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541610797	chr11:62310964-62310965	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs561876235	chr11:62310987-62310988	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs147734664	chr11:62311010-62311011	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs368262250	chr11:62311031-62311032	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs550310181	chr11:62311075-62311076	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs564069368	chr11:62311118-62311119	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs140924568	chr11:62311126-62311127	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs546689336	chr11:62311147-62311148	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs149817610	chr11:62311151-62311152	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs529758500	chr11:62311171-62311172	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs548294013	chr11:62311176-62311177	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs144955648	chr11:62311227-62311228	Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs2512563	chr11:62311249-62311250	Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs569494627	chr11:62311268-62311269	Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs538482243	chr11:62311295-62311296	Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs557873143	chr11:62311353-62311354	Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs577932353	chr11:62311355-62311356	Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	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
Myelofibrosis	22110671	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	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62302400-62312400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:62302400-62315400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:62305600-62311200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:62305800-62311200	Transcr. at gene 5' and 3'	NHEK	skin
5	chr11:62305800-62311600	Enhancers	Pancreas	Pancrea
6	chr11:62305800-62312600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:62306400-62312200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:62307000-62311200	Flanking Active TSS	HMEC	breast
9	chr11:62307000-62311400	Flanking Active TSS	Osteobl	bone
10	chr11:62307000-62312200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:62307000-62312600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:62307000-62312600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:62307000-62313600	Flanking Active TSS	GM12878-XiMat	blood
14	chr11:62308000-62311600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:62308000-62313200	Transcr. at gene 5' and 3'	NHLF	lung
16	chr11:62308200-62311000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:62308200-62311200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr11:62308200-62312200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:62308200-62312800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:62308200-62313000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:62308200-62313200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:62308400-62311200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr11:62308400-62312200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:62308400-62313000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:62308400-62313400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr11:62308600-62313200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
27	chr11:62309000-62314000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr11:62309200-62311200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:62309400-62311400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
30	chr11:62309400-62312200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:62309600-62312200	Flanking Active TSS	Right Ventricle	heart
32	chr11:62309600-62312600	Flanking Active TSS	Hela-S3	cervix
33	chr11:62309600-62313200	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr11:62309800-62311200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:62309800-62312000	Active TSS	Psoas Muscle	Psoas
36	chr11:62309800-62312400	Flanking Active TSS	Fetal Heart	heart
37	chr11:62309800-62312400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr11:62309800-62313200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:62309800-62313400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:62309800-62315400	Active TSS	Aorta	Aorta
41	chr11:62310000-62311000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:62310000-62311000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr11:62310000-62311000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:62310000-62311200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:62310000-62311200	Flanking Active TSS	Fetal Lung	lung
46	chr11:62310000-62311200	Flanking Active TSS	K562	blood
47	chr11:62310000-62311400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:62310000-62311400	Flanking Active TSS	Lung	lung
49	chr11:62310000-62311400	Flanking Active TSS	Stomach Mucosa	stomach
50	chr11:62310000-62311400	Flanking Active TSS	NH-A	brain

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