Variant report

Variant	rs1998303
Chromosome Location	chr9:85414981-85414982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1005796	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1005990	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1040870	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10491547	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10867882	0.96[AFR][1000 genomes]
rs10867883	0.86[AFR][1000 genomes]
rs10867885	0.84[ASN][1000 genomes]
rs11139799	0.85[ASN][1000 genomes]
rs11139800	0.85[ASN][1000 genomes]
rs11794899	0.83[AFR][1000 genomes]
rs2208610	0.87[ASN][1000 genomes]
rs2208611	0.87[ASN][1000 genomes]
rs2208613	0.85[ASN][1000 genomes]
rs2224518	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2224519	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4877236	0.87[ASN][1000 genomes]
rs4877237	0.87[ASN][1000 genomes]
rs4877238	0.87[ASN][1000 genomes]
rs4877710	0.81[AFR][1000 genomes]
rs4877711	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4877712	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6559683	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6559684	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7026053	0.81[AFR][1000 genomes]
rs7038824	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7853116	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7860548	0.87[ASN][1000 genomes]
rs9644990	0.83[AFR][1000 genomes]
rs9919044	0.87[ASN][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	nsv1035314	chr9:85348780-85549246	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv540161	chr9:85348780-85549246	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1039930	chr9:85349993-85536746	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Select biomarker traits	17903293	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85395400-85424800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:85404600-85420400	Weak transcription	Gastric	stomach
3	chr9:85404600-85422200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:85404600-85422200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:85413200-85415200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:85413600-85415200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:85413600-85418400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:85413800-85415400	Enhancers	Fetal Lung	lung
9	chr9:85414200-85415400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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