Variant report

Variant	rs12548560
Chromosome Location	chr8:130107054-130107055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130101158..130103152-chr8:130105792..130107982,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10091534	0.91[EUR][1000 genomes]
rs10092630	0.90[EUR][1000 genomes]
rs10095301	0.90[EUR][1000 genomes]
rs10099762	0.90[EUR][1000 genomes]
rs10101123	0.81[EUR][1000 genomes]
rs10103413	0.81[EUR][1000 genomes]
rs10108864	0.90[EUR][1000 genomes]
rs10109509	0.91[EUR][1000 genomes]
rs10110358	0.90[EUR][1000 genomes]
rs10464829	0.86[CEU][hapmap];0.91[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs10464869	0.82[EUR][1000 genomes]
rs10808575	0.89[EUR][1000 genomes]
rs10808576	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956460	0.81[EUR][1000 genomes]
rs10956461	0.82[EUR][1000 genomes]
rs11784932	0.83[EUR][1000 genomes]
rs13264853	0.91[EUR][1000 genomes]
rs13276597	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1372445	0.81[EUR][1000 genomes]
rs1372446	0.81[EUR][1000 genomes]
rs1372454	0.80[EUR][1000 genomes]
rs1866980	0.88[EUR][1000 genomes]
rs2028514	0.81[EUR][1000 genomes]
rs2028515	0.85[EUR][1000 genomes]
rs4266613	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4326354	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4367496	0.81[EUR][1000 genomes]
rs4391393	0.84[EUR][1000 genomes]
rs4445189	0.82[EUR][1000 genomes]
rs4487715	0.84[EUR][1000 genomes]
rs4545059	0.85[EUR][1000 genomes]
rs4628228	0.90[EUR][1000 genomes]
rs55830016	0.83[EUR][1000 genomes]
rs56198698	0.80[ASN][1000 genomes]
rs6470675	0.88[EUR][1000 genomes]
rs6470683	0.82[EUR][1000 genomes]
rs6470685	0.83[EUR][1000 genomes]
rs6470688	0.81[EUR][1000 genomes]
rs6470691	0.84[EUR][1000 genomes]
rs6470693	0.84[EUR][1000 genomes]
rs6989798	0.83[EUR][1000 genomes]
rs6991090	0.83[EUR][1000 genomes]
rs6995803	0.82[EUR][1000 genomes]
rs6997012	0.83[EUR][1000 genomes]
rs7003680	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7008734	0.83[EUR][1000 genomes]
rs7015312	0.91[EUR][1000 genomes]
rs7016655	0.89[EUR][1000 genomes]
rs7017891	0.90[EUR][1000 genomes]
rs7018297	0.90[EUR][1000 genomes]
rs7821930	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822165	0.87[EUR][1000 genomes]
rs7827792	0.89[EUR][1000 genomes]
rs7827975	0.89[EUR][1000 genomes]
rs7833433	0.90[EUR][1000 genomes]
rs7836420	0.86[EUR][1000 genomes]
rs7837430	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7841546	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7842220	0.89[EUR][1000 genomes]
rs7842406	0.89[EUR][1000 genomes]
rs7843646	0.89[EUR][1000 genomes]
rs7843900	0.89[EUR][1000 genomes]
rs9297780	0.81[EUR][1000 genomes]
rs9297781	0.89[EUR][1000 genomes]
rs9969663	0.82[EUR][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	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130085600-130115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130094800-130112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:130102400-130107200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:130105800-130108400	Genic enhancers	Dnd41	blood
5	chr8:130106800-130107600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:130107000-130109600	Weak transcription	Fetal Thymus	thymus

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