Variant report

Variant	rs5752552
Chromosome Location	chr22:27858043-27858044
allele	G/T
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	RCOR1	chr22:27856598-27858615	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27857934..27860311-chr22:27860712..27862590,2	K562	blood:

Variant related genes	Relation type
ENSG00000227880	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1997930	1.00[ASN][1000 genomes]
rs2009947	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4822882	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4822885	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4822886	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4822887	0.80[AMR][1000 genomes]
rs5752555	0.83[AFR][1000 genomes]
rs5752556	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752558	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752559	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762160	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5762162	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5762163	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5762164	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762166	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762167	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762168	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5762169	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762170	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762171	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762172	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762173	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762174	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6005455	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005456	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs910402	0.87[AFR][1000 genomes];0.97[EUR][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:57 , 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	chr22:27856000-27858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:27856000-27858600	Enhancers	NHLF	lung
8	chr22:27856000-27859000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:27856000-27859200	Enhancers	Brain Anterior Caudate	brain
10	chr22:27856000-27859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr22:27856000-27859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:27856000-27859400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr22:27856000-27859800	Enhancers	Adipose Nuclei	Adipose
14	chr22:27856200-27858200	Enhancers	Brain Substantia Nigra	brain
15	chr22:27856200-27858600	Enhancers	HSMMtube	muscle
16	chr22:27856200-27859000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:27856200-27859400	Enhancers	NH-A	brain
18	chr22:27856200-27859600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:27856400-27858200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr22:27856400-27858400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr22:27856400-27859200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr22:27856400-27859400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:27856400-27859400	Enhancers	Brain Cingulate Gyrus	brain
24	chr22:27856600-27858400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr22:27856600-27858400	Enhancers	NHEK	skin
26	chr22:27856600-27858600	Enhancers	HMEC	breast
27	chr22:27856600-27859000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:27856600-27859200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:27856600-27860000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr22:27856800-27858400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:27856800-27860200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:27857000-27858400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr22:27857200-27858400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr22:27857200-27858400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:27857400-27858200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr22:27857400-27858400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:27857400-27858600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:27857400-27859000	Enhancers	Aorta	Aorta
39	chr22:27857400-27859200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr22:27857400-27859400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr22:27857400-27859400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:27857400-27859600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:27857600-27858400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:27857600-27859400	Enhancers	Brain Angular Gyrus	brain
45	chr22:27857800-27858200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:27857800-27858200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr22:27857800-27858400	Enhancers	A549	lung
48	chr22:27858000-27858200	Enhancers	HSMM	muscle
49	chr22:27858000-27858200	Enhancers	Osteobl	bone
50	chr22:27858000-27858600	Flanking Active TSS	Brain Hippocampus Middle	brain

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