Variant report

Variant	rs10098488
Chromosome Location	chr8:11130977-11130978
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11129991..11132534-chr8:11138576..11141287,2	K562	blood:

Variant related genes	Relation type
ENSG00000249316	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10107010	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11250127	0.88[CEU][hapmap];0.88[JPT][hapmap]
rs13270679	0.81[AMR][1000 genomes]
rs13279067	0.81[AMR][1000 genomes]
rs1347410	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs17797443	0.89[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs1897950	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs2060465	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap]
rs2099456	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs2164272	0.89[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap]
rs2164273	0.89[CEU][hapmap];0.80[CHB][hapmap]
rs2293855	0.85[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2293856	0.85[CEU][hapmap]
rs2572417	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2572418	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2572419	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2736277	0.84[CEU][hapmap]
rs2736375	0.82[EUR][1000 genomes]
rs3808509	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs3808513	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs3808518	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3808519	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4559208	0.81[AMR][1000 genomes]
rs4568582	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs4840554	0.88[AMR][1000 genomes]
rs6601578	0.92[CEU][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes]
rs6601579	0.81[AMR][1000 genomes]
rs6984759	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6985146	0.89[CEU][hapmap]
rs6985460	0.89[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap]
rs6991074	0.86[AMR][1000 genomes]
rs6991606	0.89[CEU][hapmap];0.83[CHB][hapmap]
rs7004362	0.82[AMR][1000 genomes]
rs718427	0.85[CEU][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10098488	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs10098488	NEIL2	cis	Nerve Tibial	GTEx
rs10098488	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11116800-11131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:11122800-11132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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