Variant report

Variant	rs6042566
Chromosome Location	chr20:1469390-1469391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6033876	0.89[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6033904	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042668	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042694	0.88[EUR][1000 genomes]
rs6105249	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6110210	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6110218	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6110254	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567340	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv833893	chr20:1414615-1527779	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1460800-1470200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr20:1462200-1469600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr20:1465600-1470000	Weak transcription	HUVEC	blood vessel
4	chr20:1466000-1469400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:1466000-1470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:1466000-1470000	Weak transcription	Hela-S3	cervix
7	chr20:1468600-1472400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:1468800-1469400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
9	chr20:1468800-1469800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
10	chr20:1469000-1470600	Active TSS	Primary B cells from cord blood	blood
11	chr20:1469000-1471600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:1469200-1470000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr20:1469200-1470000	Enhancers	NHEK	skin
14	chr20:1469200-1473000	Enhancers	HMEC	breast

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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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