Variant report

Variant	rs10848548
Chromosome Location	chr12:1783251-1783252
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	chr12:1779859..1783581-chr12:1798153..1801814,4	K562	blood:
2	chr12:1782061..1785967-chr12:1788388..1791261,4	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1044471	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs10735003	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs10744552	1.00[YRI][hapmap]
rs10773980	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10773988	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10773989	0.82[CHB][hapmap]
rs10773991	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10848557	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10848563	0.89[ASN][1000 genomes]
rs10848565	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10848567	0.87[ASN][1000 genomes]
rs10848571	0.85[ASN][1000 genomes]
rs11061971	0.85[ASN][1000 genomes]
rs11612383	0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs12316367	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2068491	0.87[ASN][1000 genomes]
rs2108642	0.81[ASN][1000 genomes]
rs2190556	0.89[ASN][1000 genomes]
rs2286383	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2286384	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3759374	0.85[ASN][1000 genomes]
rs4140992	0.87[ASN][1000 genomes]
rs4765843	0.85[ASN][1000 genomes]
rs4765844	0.85[ASN][1000 genomes]
rs4766415	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.84[MKK][hapmap];0.85[ASN][1000 genomes]
rs6489326	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7294540	1.00[YRI][hapmap]
rs7294668	0.95[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs7296521	0.94[ASN][1000 genomes]
rs7955261	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7974422	0.85[ASN][1000 genomes]
rs7974924	0.85[ASN][1000 genomes]
rs7976827	0.89[ASN][1000 genomes]
rs7978362	0.81[ASN][1000 genomes]
rs7978783	0.82[ASN][1000 genomes]
rs9300298	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs9739162	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs9805049	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10848548	ADIPOR2	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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