Variant report

Variant	rs738571
Chromosome Location	chr22:27854979-27854980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1884133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738573	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9613450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.84[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27851000-27855000	Enhancers	HMEC	breast
2	chr22:27851000-27855400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:27851000-27856000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:27851200-27855000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:27851200-27857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:27851200-27857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:27851200-27857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:27851800-27855800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:27852600-27855000	Enhancers	HSMM	muscle
10	chr22:27852600-27858400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr22:27853000-27856000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:27853600-27855400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:27853800-27855200	Weak transcription	Aorta	Aorta
14	chr22:27853800-27855800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:27853800-27856000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:27853800-27856000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:27853800-27856000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:27853800-27856200	Weak transcription	HSMMtube	muscle
19	chr22:27853800-27857200	Weak transcription	A549	lung
20	chr22:27853800-27857400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:27854000-27855200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:27854000-27856000	Weak transcription	NHDF-Ad	bronchial
23	chr22:27854000-27856200	Weak transcription	NH-A	brain
24	chr22:27854200-27855400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:27854200-27856200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:27854200-27856200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:27854200-27856600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:27854200-27856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:27854400-27856400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr22:27854400-27856600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:27854400-27856600	Weak transcription	NHEK	skin
32	chr22:27854800-27855600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:27854800-27860200	Enhancers	Fetal Brain Male	brain

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