Variant report

Variant	rs6006287
Chromosome Location	chr22:30264827-30264828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs58158427	1.00[AFR][1000 genomes]
rs7284772	1.00[AFR][1000 genomes]
rs7286610	1.00[AFR][1000 genomes]
rs7287472	1.00[AFR][1000 genomes]
rs7287547	1.00[AFR][1000 genomes]
rs7289121	1.00[AFR][1000 genomes]
rs7290334	1.00[AFR][1000 genomes]
rs7290601	1.00[AFR][1000 genomes]
rs7290936	1.00[AFR][1000 genomes]
rs7291270	1.00[AFR][1000 genomes]
rs7291597	1.00[AFR][1000 genomes]
rs7291748	1.00[AFR][1000 genomes]
rs7291902	1.00[AFR][1000 genomes]
rs7292072	1.00[AFR][1000 genomes]
rs7293189	1.00[AFR][1000 genomes]
rs73162767	1.00[AFR][1000 genomes]
rs9754503	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr22:30258200-30267600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30261200-30265800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30263400-30265000	Enhancers	Fetal Brain Male	brain
4	chr22:30263800-30265800	Weak transcription	HMEC	breast
5	chr22:30263800-30265800	Weak transcription	NHEK	skin
6	chr22:30263800-30267600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr22:30264400-30265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:30264400-30266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr22:30264400-30266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:30264600-30266800	Weak transcription	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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