Variant report

Variant	rs7289516
Chromosome Location	chr22:28942284-28942285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10439931	0.81[AFR][1000 genomes]
rs134527	0.82[AMR][1000 genomes]
rs134544	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5752746	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5762668	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5762670	0.81[AMR][1000 genomes]
rs6519752	0.81[AFR][1000 genomes]
rs695388	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs695567	0.81[AMR][1000 genomes]
rs695629	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs695709	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9613609	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][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	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28917600-28943200	Weak transcription	Left Ventricle	heart
2	chr22:28933600-28953800	Weak transcription	HSMMtube	muscle
3	chr22:28935400-28943000	Weak transcription	Fetal Brain Male	brain
4	chr22:28937000-28945600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:28937400-28950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:28937600-28946200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:28937600-28946400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:28939200-28942800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:28939400-28943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:28939600-28944200	Weak transcription	Fetal Lung	lung
11	chr22:28939600-28946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:28940200-28943200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:28940800-28943000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:28940800-28943000	Weak transcription	NHLF	lung
15	chr22:28941000-28943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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