Variant report

Variant	rs9613450
Chromosome Location	chr22:27856190-27856191
allele	A/G
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	E2F6	chr22:27856019-27856425	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr22:27855909-27856452	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFF	chr22:27855973-27856193	HepG2	liver:	n/a	chr22:27856117-27856135
4	MAX	chr22:27856078-27856389	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr22:27855965-27856303	IMR90	lung:	n/a	chr22:27856118-27856133
6	MAFK	chr22:27855951-27856280	HepG2	liver:	n/a	chr22:27856118-27856133
7	MAFK	chr22:27856011-27856252	HepG2	liver:	n/a	chr22:27856118-27856133

Variant related genes	Relation type
ENSG00000227880	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1884133	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738571	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738573	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9608612	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27851200-27857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:27851200-27857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:27851200-27857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:27852600-27858400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr22:27853800-27856200	Weak transcription	HSMMtube	muscle
6	chr22:27853800-27857200	Weak transcription	A549	lung
7	chr22:27853800-27857400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:27854000-27856200	Weak transcription	NH-A	brain
9	chr22:27854200-27856200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:27854200-27856200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:27854200-27856600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:27854200-27856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:27854400-27856400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:27854400-27856600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:27854400-27856600	Weak transcription	NHEK	skin
16	chr22:27854800-27860200	Enhancers	Fetal Brain Male	brain
17	chr22:27855000-27856200	Weak transcription	HSMM	muscle
18	chr22:27855000-27856600	Weak transcription	HMEC	breast
19	chr22:27855000-27857400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:27855200-27856400	Enhancers	Aorta	Aorta
21	chr22:27855200-27857400	Enhancers	Fetal Stomach	stomach
22	chr22:27855200-27859200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:27855400-27857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:27855400-27859400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:27855600-27856200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:27855800-27857000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr22:27855800-27857600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr22:27855800-27859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:27856000-27856200	Enhancers	Brain Hippocampus Middle	brain
30	chr22:27856000-27856400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:27856000-27856800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:27856000-27856800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr22:27856000-27857000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:27856000-27857200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr22:27856000-27857400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr22:27856000-27857600	Enhancers	Osteobl	bone
37	chr22:27856000-27857800	Enhancers	NHDF-Ad	bronchial
38	chr22:27856000-27858000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:27856000-27858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:27856000-27858600	Enhancers	NHLF	lung
41	chr22:27856000-27859000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:27856000-27859200	Enhancers	Brain Anterior Caudate	brain
43	chr22:27856000-27859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr22:27856000-27859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr22:27856000-27859400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr22:27856000-27859800	Enhancers	Adipose Nuclei	Adipose

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