Variant report

Variant	rs3892686
Chromosome Location	chr8:20230912-20230913
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20080837..20081378-chr8:20230451..20231038,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1038466	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10503678	0.83[EUR][1000 genomes]
rs11204110	0.80[EUR][1000 genomes]
rs12541135	0.82[EUR][1000 genomes]
rs12543131	0.83[EUR][1000 genomes]
rs12543855	0.83[EUR][1000 genomes]
rs12544394	0.83[EUR][1000 genomes]
rs12547804	0.82[EUR][1000 genomes]
rs12550451	0.82[EUR][1000 genomes]
rs12680557	0.81[AMR][1000 genomes]
rs12681197	0.80[EUR][1000 genomes]
rs13249689	0.81[EUR][1000 genomes]
rs13255790	0.88[EUR][1000 genomes]
rs13278066	0.83[EUR][1000 genomes]
rs13279109	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1872346	0.82[EUR][1000 genomes]
rs2062347	0.81[EUR][1000 genomes]
rs2062348	0.81[EUR][1000 genomes]
rs34368954	0.81[EUR][1000 genomes]
rs34393111	0.80[EUR][1000 genomes]
rs34738114	0.80[EUR][1000 genomes]
rs35102761	0.83[EUR][1000 genomes]
rs35267049	0.80[EUR][1000 genomes]
rs35851624	0.81[EUR][1000 genomes]
rs4269558	0.81[EUR][1000 genomes]
rs4376510	0.81[EUR][1000 genomes]
rs4397421	0.80[EUR][1000 genomes]
rs4397422	0.81[EUR][1000 genomes]
rs4493920	0.81[EUR][1000 genomes]
rs4921706	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4921710	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4922167	0.83[EUR][1000 genomes]
rs4922168	0.83[EUR][1000 genomes]
rs4922170	0.82[EUR][1000 genomes]
rs4922171	0.83[EUR][1000 genomes]
rs4922172	0.83[EUR][1000 genomes]
rs4922173	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4922174	0.95[EUR][1000 genomes]
rs4922176	0.80[EUR][1000 genomes]
rs4922190	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57421611	0.82[EUR][1000 genomes]
rs66866121	0.83[EUR][1000 genomes]
rs6985844	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs871403	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs885437	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs900951	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs900954	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900955	0.80[EUR][1000 genomes]
rs985181	0.84[AMR][1000 genomes];0.88[EUR][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20227000-20231400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:20227000-20232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:20227200-20231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:20227200-20231000	Weak transcription	Fetal Brain Male	brain
5	chr8:20227200-20231400	Weak transcription	Fetal Brain Female	brain
6	chr8:20227200-20232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:20227200-20232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:20227200-20233000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:20227200-20233400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:20227200-20234000	Weak transcription	HSMMtube	muscle
11	chr8:20228800-20232200	Enhancers	Fetal Muscle Leg	muscle
12	chr8:20229600-20232400	Enhancers	Fetal Muscle Trunk	muscle
13	chr8:20230800-20231000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:20230800-20231400	Enhancers	HSMM	muscle
15	chr8:20230800-20234200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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