Variant report

Variant	rs6006290
Chromosome Location	chr22:30266465-30266466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12160803	1.00[AFR][1000 genomes]
rs28534024	1.00[AFR][1000 genomes]
rs34631511	1.00[AFR][1000 genomes]
rs5997525	1.00[AFR][1000 genomes]
rs5997527	1.00[AFR][1000 genomes]
rs5997528	1.00[AFR][1000 genomes]
rs5997554	1.00[AFR][1000 genomes]
rs6006277	1.00[AFR][1000 genomes]
rs6006279	1.00[AFR][1000 genomes]
rs6006281	1.00[AFR][1000 genomes]
rs6006285	1.00[AFR][1000 genomes]
rs6006312	1.00[AFR][1000 genomes]
rs6006316	1.00[AFR][1000 genomes]
rs6006337	1.00[AFR][1000 genomes]
rs61737778	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30258200-30267600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30263800-30267600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr22:30264400-30266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:30264400-30266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr22:30264600-30266800	Weak transcription	Fetal Heart	heart
6	chr22:30265000-30267200	Weak transcription	Fetal Brain Male	brain
7	chr22:30265800-30267400	Enhancers	HMEC	breast
8	chr22:30265800-30267600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:30265800-30268800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:30265800-30268800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr22:30265800-30269200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:30265800-30270200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:30266400-30266600	Enhancers	NHEK	skin

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

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