Variant report

Variant	rs5762680
Chromosome Location	chr22:28945515-28945516
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1125250	0.87[CEU][hapmap]
rs134507	0.83[CEU][hapmap]
rs134529	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs134541	0.83[CEU][hapmap]
rs134543	0.83[CEU][hapmap]
rs134545	0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap]
rs134548	0.83[CEU][hapmap]
rs17503350	0.80[CEU][hapmap]
rs1807603	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1986052	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2145161	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2180460	0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4035540	0.83[CEU][hapmap]
rs5752745	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs5752763	0.88[ASN][1000 genomes]
rs5752764	0.94[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs5762629	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762665	0.96[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs5762683	0.96[ASN][1000 genomes]
rs5762694	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762730	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs5762737	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs5762741	0.88[AFR][1000 genomes]
rs5762746	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs6005795	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6005835	0.84[CEU][hapmap]
rs695591	0.83[CEU][hapmap]
rs695625	0.83[CEU][hapmap]
rs9625533	0.95[CHB][hapmap];0.89[JPT][hapmap]

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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28933600-28953800	Weak transcription	HSMMtube	muscle
2	chr22:28937000-28945600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:28937400-28950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:28937600-28946200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:28937600-28946400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:28939600-28946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:28943000-28945800	Enhancers	Fetal Brain Male	brain
8	chr22:28944600-28945800	Weak transcription	A549	lung
9	chr22:28944600-28956000	Weak transcription	NHDF-Ad	bronchial
10	chr22:28944800-28952800	Weak transcription	Fetal Lung	lung

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