Variant report

Variant	rs8083329
Chromosome Location	chr18:12217885-12217886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:10617533..10619309-chr18:12216627..12218573,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10445426	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11080549	0.81[EUR][1000 genomes]
rs11663077	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11876652	0.84[CEU][hapmap];0.95[CHB][hapmap]
rs12604417	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs12965571	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12969917	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs1986750	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap]
rs1986751	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2006690	0.84[CEU][hapmap];0.95[CHB][hapmap]
rs2849393	0.95[CHB][hapmap]
rs2849414	0.94[CHB][hapmap]
rs2849415	0.88[CEU][hapmap];0.89[CHB][hapmap]
rs2849416	0.83[CEU][hapmap];0.89[CHB][hapmap]
rs2849418	0.84[CEU][hapmap];0.90[CHB][hapmap]
rs2849420	1.00[CHB][hapmap]
rs2851900	0.84[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs2851901	1.00[CHB][hapmap]
rs2851922	0.84[CEU][hapmap];0.90[CHB][hapmap]
rs4239305	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4239307	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4261610	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4347689	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4419117	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4519391	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4528648	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4538071	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4796947	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs4797615	0.94[CHB][hapmap]
rs6505710	0.83[CEU][hapmap];0.94[CHB][hapmap]
rs6505717	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7227955	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7235017	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap]
rs7236715	0.83[CEU][hapmap];0.94[CHB][hapmap]
rs7240093	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7242225	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7243248	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7244723	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8083535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8083709	0.83[EUR][1000 genomes]
rs8084532	0.84[EUR][1000 genomes]
rs8095234	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs8095647	1.00[CEU][hapmap];0.94[CHB][hapmap]
rs9303759	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs949233	0.84[CEU][hapmap];0.95[CHB][hapmap]
rs9948384	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap]
rs9951929	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs9956997	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1055343	chr18:12107012-12226356	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv960252	chr18:12161216-12220798	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8083329	RP11-64C12.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12209400-12218600	Weak transcription	Hela-S3	cervix
2	chr18:12215000-12218600	Weak transcription	HMEC	breast
3	chr18:12217400-12218000	Enhancers	NHEK	skin
4	chr18:12217800-12219000	Enhancers	HUVEC	blood vessel

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