Variant report

Variant	rs73549063
Chromosome Location	chr11:73968186-73968187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:73968122-73968200	K562	blood:	n/a	n/a
2	POLR2A	chr11:73963369-73969941	A549	lung:	n/a	n/a
3	CEBPB	chr11:73967988-73968292	A549	lung:	n/a	n/a
4	CEBPB	chr11:73967893-73968300	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73962370..73964549-chr11:73967148..73969915,2	MCF-7	breast:
2	chr11:73675181..73677291-chr11:73967062..73968941,2	K562	blood:
3	chr11:73679988..73682781-chr11:73965543..73968293,2	MCF-7	breast:
4	chr11:73694020..73696728-chr11:73965513..73968438,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206913	TF binding region
ENSG00000255847	Chromatin interaction
ENSG00000206913	Chromatin interaction
ENSG00000187726	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1095422	1.00[EUR][1000 genomes]
rs17132641	1.00[EUR][1000 genomes]
rs55870513	1.00[EUR][1000 genomes]
rs55908804	1.00[EUR][1000 genomes]
rs56334028	1.00[EUR][1000 genomes]
rs57577978	1.00[EUR][1000 genomes]
rs57877505	1.00[EUR][1000 genomes]
rs57884237	1.00[EUR][1000 genomes]
rs7102679	1.00[EUR][1000 genomes]
rs7107380	1.00[AMR][1000 genomes]
rs7117831	1.00[EUR][1000 genomes]
rs7121118	1.00[EUR][1000 genomes]
rs73557990	1.00[EUR][1000 genomes]
rs7946879	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73907400-73969200	Weak transcription	HUVEC	blood vessel
2	chr11:73955800-73968800	Weak transcription	Stomach Mucosa	stomach
3	chr11:73957000-73968200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:73958400-73968400	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:73961000-73969600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:73961400-73968600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:73962000-73969200	Weak transcription	Fetal Kidney	kidney
8	chr11:73962400-73968800	Weak transcription	Psoas Muscle	Psoas
9	chr11:73962800-73968600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:73962800-73968800	Weak transcription	Fetal Brain Male	brain
11	chr11:73963000-73969600	Weak transcription	K562	blood
12	chr11:73965000-73970200	Weak transcription	Small Intestine	intestine
13	chr11:73965400-73968400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:73965400-73968600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:73965600-73969000	Weak transcription	NHDF-Ad	bronchial
16	chr11:73965800-73968600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:73965800-73968800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:73965800-73969200	Weak transcription	Pancreas	Pancrea
19	chr11:73965800-73970000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:73966000-73969000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:73966000-73969000	Weak transcription	Ovary	ovary
22	chr11:73966000-73969400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:73966000-73971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:73966000-73972000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:73966200-73968200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:73966200-73969400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:73966200-73969400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:73966200-73969400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:73966200-73969400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:73966200-73970600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:73966200-73971400	Weak transcription	NHEK	skin
32	chr11:73966200-73980000	Weak transcription	Gastric	stomach
33	chr11:73966400-73968200	Weak transcription	Brain Germinal Matrix	brain
34	chr11:73966400-73968400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:73966400-73968600	Weak transcription	Osteobl	bone
36	chr11:73966400-73968800	Weak transcription	Dnd41	blood
37	chr11:73966400-73969000	Weak transcription	Left Ventricle	heart
38	chr11:73966400-73969200	Weak transcription	Primary B cells from cord blood	blood
39	chr11:73966400-73969200	Weak transcription	Brain Angular Gyrus	brain
40	chr11:73966400-73969200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:73966400-73979200	Weak transcription	Primary T cells from cord blood	blood
42	chr11:73966600-73968200	Weak transcription	Lung	lung
43	chr11:73966600-73968400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:73966600-73968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:73966600-73968600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:73966600-73968600	Weak transcription	Aorta	Aorta
47	chr11:73966600-73969000	Weak transcription	Brain Anterior Caudate	brain
48	chr11:73966600-73969000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:73966600-73969000	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:73966600-73969000	Weak transcription	Fetal Brain Female	brain

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