Variant report

Variant	esv2222355
Chromosome Location	chr11:47377511-47377515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:47377142-47379210	GM12878	blood:	n/a	chr11:47377212-47377225
2	BCL3	chr11:47377019-47379137	GM12878	blood:	n/a	chr11:47377212-47377225
3	BHLHE40	chr11:47377442-47377654	K562	blood:	n/a	n/a
4	CBX3	chr11:47377333-47377808	K562	blood:	n/a	n/a
5	CHD2	chr11:47377503-47377715	GM12878	blood:	n/a	n/a
6	CTCF	chr11:47376309-47377682	A549	lung:	n/a	n/a
7	CTCF	chr11:47376058-47377990	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr11:47377220-47377669	GM19239	blood:	n/a	n/a
9	CTCF	chr11:47377195-47377689	NHEK	skin:	n/a	n/a
10	CTCF	chr11:47377497-47377627	GM12892	blood:	n/a	n/a
11	EGR1	chr11:47376740-47377600	MCF-7	breast:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
12	EGR1	chr11:47376752-47378139	K562	blood:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
13	EGR1	chr11:47376806-47377522	K562	blood:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
14	EGR1	chr11:47376818-47377606	ECC-1	luminal epithelium:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
15	ELF1	chr11:47376658-47377820	MCF-7	breast:	n/a	n/a
16	HCFC1	chr11:47375283-47378502	Hela-S3	cervix:	n/a	n/a
17	HDAC2	chr11:47376685-47377532	MCF-7	breast:	n/a	n/a
18	MAX	chr11:47376577-47378018	A549	lung:	n/a	chr11:47377117-47377127
19	MAX	chr11:47376685-47377942	MCF-7	breast:	n/a	chr11:47377117-47377127
20	MAX	chr11:47377450-47377737	NB4	blood:	n/a	n/a
21	MAX	chr11:47376749-47377831	K562	blood:	n/a	chr11:47377117-47377127
22	MAX	chr11:47377456-47377871	HepG2	liver:	n/a	n/a
23	MAX	chr11:47377369-47377704	A549	lung:	n/a	n/a
24	MAX	chr11:47376628-47377624	ECC-1	luminal epithelium:	n/a	chr11:47377117-47377127
25	MXI1	chr11:47376643-47377880	SK-N-SH	brain:	n/a	n/a
26	MYC	chr11:47377450-47377670	GM12878	blood:	n/a	n/a
27	MYC	chr11:47377435-47377563	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr11:47376867-47377553	MCF-7	breast:	n/a	chr11:47377117-47377127
29	MYC	chr11:47377234-47377682	MCF-7	breast:	n/a	n/a
30	NFATC1	chr11:47377170-47379243	GM12878	blood:	n/a	n/a
31	NFATC1	chr11:47377156-47379234	GM12878	blood:	n/a	n/a
32	NFIC	chr11:47377266-47377775	GM12878	blood:	n/a	n/a
33	NR2C2	chr11:47377334-47379030	Hela-S3	cervix:	n/a	n/a
34	NR2C2	chr11:47377433-47378934	GM12878	blood:	n/a	n/a
35	PBX3	chr11:47377237-47379073	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:47377292-47378065	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:47377105-47379138	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:47377324-47378461	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:47377284-47377607	GM12891	blood:	n/a	n/a
40	POLR2A	chr11:47377075-47379134	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:47377106-47379195	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:47377233-47379168	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:47377259-47378915	K562	blood:	n/a	n/a
44	POLR2A	chr11:47377368-47379035	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:47377122-47379262	GM12892	blood:	n/a	n/a
46	POLR2A	chr11:47377416-47377743	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:47377453-47378995	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:47376524-47379003	K562	blood:	n/a	n/a
49	POLR2A	chr11:47376852-47379239	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:47375214-47379216	HL-60	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47181895..47183396-chr11:47375701..47377914,2	K562	blood:
2	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
3	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:
4	chr11:47375322..47377649-chr11:47398628..47401440,2	K562	blood:
5	chr11:47207118..47209265-chr11:47376367..47377900,2	K562	blood:
6	chr11:47376739..47379188-chr11:47381497..47383536,3	MCF-7	breast:
7	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
8	chr11:47376479..47377526-chr11:47429514..47430732,6	K562	blood:
9	chr11:47290509..47292951-chr11:47377343..47380007,3	MCF-7	breast:
10	chr11:47255280..47255866-chr11:47376834..47377535,2	K562	blood:
11	chr11:47196513..47199902-chr11:47376301..47378521,3	K562	blood:
12	chr11:47269295..47270881-chr11:47376927..47379206,2	MCF-7	breast:
13	chr11:47377126..47379230-chr11:47428179..47431168,2	MCF-7	breast:
14	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:

No data

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000134575	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000165912	chromatin interactions
ENSG00000066336	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146503233	chr11:47377511-47377512	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs191113775	chr11:47377513-47377514	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47375600-47377800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
9	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:47375800-47377600	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
12	chr11:47376400-47377600	Enhancers	Placenta	Placenta
13	chr11:47376600-47377600	Enhancers	Lung	lung
14	chr11:47376600-47377800	Active TSS	A549	lung
15	chr11:47376800-47377600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:47376800-47377800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:47376800-47381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:47377000-47377600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:47377000-47377600	Flanking Active TSS	Fetal Lung	lung
20	chr11:47377000-47377600	Enhancers	K562	blood
21	chr11:47377000-47377800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:47377000-47377800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr11:47377000-47377800	Flanking Active TSS	Esophagus	oesophagus
24	chr11:47377200-47377600	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr11:47377200-47377600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:47377200-47377600	Enhancers	Fetal Brain Female	brain
27	chr11:47377200-47377600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr11:47377200-47377600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr11:47377200-47377600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr11:47377200-47377600	Flanking Active TSS	HepG2	liver
31	chr11:47377200-47377800	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr11:47377200-47377800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:47377200-47377800	Enhancers	Right Ventricle	heart
34	chr11:47377200-47378200	Genic enhancers	Gastric	stomach
35	chr11:47377200-47378400	Genic enhancers	Spleen	Spleen
36	chr11:47377200-47378600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:47377200-47378800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:47377200-47386600	Weak transcription	Right Atrium	heart
39	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
40	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:47377400-47377600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr11:47377400-47377600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:47377400-47377600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:47377400-47377600	Genic enhancers	Adipose Nuclei	Adipose
45	chr11:47377400-47377600	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr11:47377400-47377600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr11:47377400-47377600	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr11:47377400-47377600	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr11:47377400-47377600	Active TSS	Colonic Mucosa	Colon
50	chr11:47377400-47377600	Flanking Active TSS	Colon Smooth Muscle	Colon

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