Variant report

Variant	rs5997355
Chromosome Location	chr22:28714212-28714213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12157518	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16986103	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16986290	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16986377	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs16986462	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2345714	0.86[ASN][1000 genomes]
rs28462248	0.83[ASN][1000 genomes]
rs55961693	0.83[ASN][1000 genomes]
rs58427200	0.86[ASN][1000 genomes]
rs5997341	0.85[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs5997363	0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs5997365	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5997367	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5997369	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5997372	0.81[ASN][1000 genomes]
rs6005724	0.85[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs6005726	0.85[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs6005733	0.90[ASN][1000 genomes]
rs6005735	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6005751	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6005757	0.89[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005758	0.90[ASN][1000 genomes]
rs6005765	0.90[ASN][1000 genomes]
rs6005779	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6005789	0.84[ASN][1000 genomes]
rs6005793	0.81[ASN][1000 genomes]
rs73427747	0.90[ASN][1000 genomes]
rs73428082	0.86[ASN][1000 genomes]
rs73428096	0.86[ASN][1000 genomes]
rs73430108	0.86[ASN][1000 genomes]
rs7510988	0.89[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv526760	chr22:28706220-28719656	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28693800-28716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:28696200-28716000	Weak transcription	Fetal Lung	lung
3	chr22:28711000-28718400	Weak transcription	Stomach Mucosa	stomach
4	chr22:28711000-28719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:28712000-28718800	Weak transcription	Gastric	stomach
6	chr22:28712200-28725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:28712800-28716400	Weak transcription	Fetal Muscle Leg	muscle
8	chr22:28713000-28715800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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