Variant report

Variant	rs12939120
Chromosome Location	chr17:38584621-38584622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10305284	1.00[EUR][1000 genomes]
rs11871146	1.00[EUR][1000 genomes]
rs34667733	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58292904	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7207151	0.81[AFR][1000 genomes]
rs7208555	1.00[EUR][1000 genomes]
rs7212482	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309055	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077355	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38575400-38588600	Weak transcription	Fetal Stomach	stomach
2	chr17:38579600-38598800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:38582600-38587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:38582800-38588000	Weak transcription	Spleen	Spleen
5	chr17:38583000-38588200	Weak transcription	K562	blood
6	chr17:38583600-38589600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:38584000-38592600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:38584400-38589200	Weak transcription	Fetal Thymus	thymus
9	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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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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