Variant report

Variant	rs8110230
Chromosome Location	chr19:21611040-21611041
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1055753	0.89[CHB][hapmap]
rs11085447	0.89[CHB][hapmap]
rs11667770	0.89[CHB][hapmap]
rs11669043	0.83[ASN][1000 genomes]
rs11673406	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12971724	0.82[EUR][1000 genomes]
rs12975081	0.89[CHB][hapmap]
rs12975981	1.00[CEU][hapmap]
rs12979646	0.82[ASN][1000 genomes]
rs12981564	0.89[CHB][hapmap]
rs12981735	0.94[CHB][hapmap]
rs12981869	1.00[CEU][hapmap]
rs12982282	0.89[CHB][hapmap]
rs12984238	0.83[EUR][1000 genomes]
rs1678822	0.87[CEU][hapmap]
rs17618778	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1781873	0.84[CHB][hapmap]
rs1813234	0.86[CEU][hapmap];0.94[CHB][hapmap];0.81[AMR][1000 genomes]
rs2012013	0.88[CHB][hapmap]
rs2088762	0.89[CHB][hapmap]
rs2133819	0.87[ASN][1000 genomes]
rs2170024	0.94[CHB][hapmap]
rs2173728	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2262896	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2358984	0.87[CEU][hapmap];0.94[CHB][hapmap];0.84[AMR][1000 genomes]
rs2454920	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2650774	0.87[ASN][1000 genomes]
rs2650775	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2650810	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2650845	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2650847	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2914629	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2914636	0.87[CEU][hapmap]
rs2914638	0.94[CHB][hapmap]
rs2914647	0.82[EUR][1000 genomes]
rs2928208	0.82[AMR][1000 genomes]
rs2937161	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35148123	0.82[EUR][1000 genomes]
rs35829872	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4315457	0.89[CHB][hapmap]
rs4341872	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4461198	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4621113	0.84[CHB][hapmap]
rs488125	0.86[CEU][hapmap]
rs501647	0.87[CEU][hapmap]
rs504280	0.82[CEU][hapmap]
rs509540	0.86[CEU][hapmap]
rs56080558	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs566230	0.86[CEU][hapmap]
rs6511228	0.84[AMR][1000 genomes]
rs6511239	0.89[CHB][hapmap]
rs685844	0.87[CEU][hapmap]
rs7247411	0.89[CHB][hapmap]
rs7248989	0.83[ASN][1000 genomes]
rs7249412	0.89[CHB][hapmap]
rs7249636	0.86[CEU][hapmap];0.94[CHB][hapmap]
rs7252261	0.89[CHB][hapmap]
rs7252873	0.84[AMR][1000 genomes]
rs7253886	0.83[ASN][1000 genomes]
rs7257857	0.89[CHB][hapmap]
rs7258086	0.84[AMR][1000 genomes]
rs7259178	0.82[EUR][1000 genomes]
rs7259311	0.89[CHB][hapmap]
rs7508671	0.81[CHB][hapmap]
rs8099940	0.89[CHB][hapmap]
rs8102328	0.84[AMR][1000 genomes]
rs8103325	0.89[CHB][hapmap]
rs8103459	0.87[CHB][hapmap]
rs8105629	1.00[CEU][hapmap]
rs8110967	0.89[CHB][hapmap]
rs8111189	0.87[CEU][hapmap]
rs8111549	0.80[ASN][1000 genomes]
rs8113558	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv911421	chr19:21579718-21613397	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8110230	ZNF429	cis	Adipose Subcutaneous	GTEx
rs8110230	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs8110230	ZNF429	cis	Whole Blood	GTEx
rs8110230	ZNF738	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21585000-21614000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21600000-21613000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:21607600-21630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:21610800-21611200	ZNF genes & repeats	Ovary	ovary

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