Variant report

Variant	rs4978118
Chromosome Location	chr9:21431766-21431767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10491563	1.00[AFR][1000 genomes]
rs10491564	1.00[AFR][1000 genomes]
rs10964990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10964991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10964992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12686498	1.00[AFR][1000 genomes]
rs13294656	1.00[AFR][1000 genomes]
rs1351077	1.00[AFR][1000 genomes]
rs16938465	1.00[AFR][1000 genomes]
rs16938468	1.00[AFR][1000 genomes]
rs4585835	1.00[AFR][1000 genomes]
rs4977727	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892739	chr9:21407250-21470520	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21429600-21432600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:21429800-21432600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr9:21430000-21432600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:21430200-21432600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:21431200-21434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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