Variant report

Variant	rs9803782
Chromosome Location	chr1:220523521-220523522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11118524	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11118528	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118529	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118530	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17641563	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6689734	0.93[AMR][1000 genomes];0.98[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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9803782	GAS2	trans	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220510800-220525600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:220511200-220526400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:220514000-220526600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:220515000-220523600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:220522800-220523600	Enhancers	Fetal Brain Female	brain
6	chr1:220523400-220524000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:220523400-220524000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:220523400-220524200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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