Variant report

Variant	rs5752551
Chromosome Location	chr22:27857717-27857718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:27857377-27857882	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr22:27857242-27857956	SK-N-SH	brain:	n/a	n/a
3	SIN3A	chr22:27857260-27857809	H1-hESC	embryonic stem cell:	n/a	chr22:27857773-27857787
4	TEAD4	chr22:27857305-27857954	SK-N-SH	brain:	n/a	n/a
5	MYC	chr22:27857441-27857730	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOSL2	chr22:27857368-27857847	SK-N-SH	brain:	n/a	n/a
7	EP300	chr22:27857415-27857789	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr22:27857444-27857775	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr22:27857476-27857800	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr22:27856598-27858615	IMR90	lung:	n/a	n/a
11	TEAD4	chr22:27857291-27857867	H1-hESC	embryonic stem cell:	n/a	n/a
12	EP300	chr22:27857366-27857888	ECC-1	luminal epithelium:	n/a	n/a
13	TEAD4	chr22:27857263-27857788	ECC-1	luminal epithelium:	n/a	n/a
14	TEAD4	chr22:27857262-27857899	A549	lung:	n/a	n/a
15	TCF12	chr22:27857282-27857961	ECC-1	luminal epithelium:	n/a	n/a
16	RAD21	chr22:27857471-27857764	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP1	chr22:27857262-27857800	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP1	chr22:27857348-27857787	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBP	chr22:27857447-27857787	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr22:27857366-27857859	ECC-1	luminal epithelium:	n/a	n/a
21	RAD21	chr22:27857318-27857846	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr22:27857400-27857912	IMR90	lung:	n/a	n/a
23	TEAD4	chr22:27857452-27857764	A549	lung:	n/a	n/a
24	POLR2A	chr22:27857464-27857809	H1-hESC	embryonic stem cell:	n/a	n/a
25	PBX3	chr22:27857469-27857970	SK-N-SH	brain:	n/a	n/a
26	SP1	chr22:27857377-27857752	A549	lung:	n/a	n/a
27	NR3C1	chr22:27857314-27857821	A549	lung:	n/a	n/a
28	TCF12	chr22:27857271-27857997	SK-N-SH	brain:	n/a	n/a
29	TCF12	chr22:27857356-27857798	H1-hESC	embryonic stem cell:	n/a	n/a
30	GTF2F1	chr22:27857524-27857749	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF12	chr22:27857383-27857897	ECC-1	luminal epithelium:	n/a	n/a
32	JUND	chr22:27857347-27857792	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTBP2	chr22:27857413-27857767	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr22:27857499-27857770	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr22:27857455-27857851	H1-hESC	embryonic stem cell:	n/a	chr22:27857837-27857845 chr22:27857826-27857848
36	EP300	chr22:27857209-27857994	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr22:27857446-27857770	SK-N-SH	brain:	n/a	n/a
38	TEAD4	chr22:27857243-27857841	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr22:27857273-27857897	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000227880	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12157480	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4820758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4822881	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4822883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4822884	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005451	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61402459	0.90[ASN][1000 genomes]
rs8136063	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv471192	chr22:27821656-27865344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv459865	chr22:27852183-27867567	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv588876	chr22:27852183-27867567	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27852600-27858400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr22:27854800-27860200	Enhancers	Fetal Brain Male	brain
3	chr22:27855200-27859200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:27855400-27859400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:27855800-27859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:27856000-27857800	Enhancers	NHDF-Ad	bronchial
7	chr22:27856000-27858000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:27856000-27858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:27856000-27858600	Enhancers	NHLF	lung
10	chr22:27856000-27859000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:27856000-27859200	Enhancers	Brain Anterior Caudate	brain
12	chr22:27856000-27859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr22:27856000-27859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:27856000-27859400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr22:27856000-27859800	Enhancers	Adipose Nuclei	Adipose
16	chr22:27856200-27857800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:27856200-27857800	Enhancers	HSMM	muscle
18	chr22:27856200-27858200	Enhancers	Brain Substantia Nigra	brain
19	chr22:27856200-27858600	Enhancers	HSMMtube	muscle
20	chr22:27856200-27859000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:27856200-27859400	Enhancers	NH-A	brain
22	chr22:27856200-27859600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:27856400-27858200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr22:27856400-27858400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr22:27856400-27859200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr22:27856400-27859400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:27856400-27859400	Enhancers	Brain Cingulate Gyrus	brain
28	chr22:27856600-27858400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr22:27856600-27858400	Enhancers	NHEK	skin
30	chr22:27856600-27858600	Enhancers	HMEC	breast
31	chr22:27856600-27859000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:27856600-27859200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:27856600-27860000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr22:27856800-27857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:27856800-27858000	Weak transcription	Fetal Brain Female	brain
36	chr22:27856800-27858400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:27856800-27860200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:27857000-27858400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr22:27857200-27858000	Enhancers	Brain Hippocampus Middle	brain
40	chr22:27857200-27858400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr22:27857200-27858400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:27857400-27857800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr22:27857400-27857800	Active TSS	A549	lung
44	chr22:27857400-27858000	Bivalent Enhancer	Fetal Stomach	stomach
45	chr22:27857400-27858200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr22:27857400-27858400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:27857400-27858600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:27857400-27859000	Enhancers	Aorta	Aorta
49	chr22:27857400-27859200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr22:27857400-27859400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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