Variant report

Variant	rs12243792
Chromosome Location	chr10:38081716-38081717
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	chr10:38072619..38074614-chr10:38079487..38081765,2	K562	blood:

Variant related genes	Relation type
ENSG00000226578	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10508861	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10764138	0.81[ASN][1000 genomes]
rs10827802	0.82[ASN][1000 genomes]
rs11011371	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1208578	0.80[EUR][1000 genomes]
rs1208621	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12265979	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12412402	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12413854	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16937569	0.99[ASN][1000 genomes]
rs16937571	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1735625	0.82[EUR][1000 genomes]
rs17608725	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1779073	0.85[EUR][1000 genomes]
rs200907	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs200909	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs200913	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs200914	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs200941	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs200944	0.90[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs2208317	0.82[ASN][1000 genomes]
rs2224372	0.81[ASN][1000 genomes]
rs2474553	0.80[EUR][1000 genomes]
rs2489166	0.80[EUR][1000 genomes]
rs2738221	0.85[EUR][1000 genomes]
rs2753883	0.83[EUR][1000 genomes]
rs289637	0.81[ASN][1000 genomes]
rs289640	0.82[ASN][1000 genomes]
rs3739992	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55738335	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742761	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56905472	0.99[ASN][1000 genomes]
rs59486180	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67011531	0.99[ASN][1000 genomes]
rs67276704	0.83[EUR][1000 genomes]
rs68087889	0.87[EUR][1000 genomes]
rs7068885	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766362	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7895468	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs9418311	0.80[EUR][1000 genomes]
rs9787710	0.82[ASN][1000 genomes]
rs995141	0.82[ASN][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	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv975812	chr10:37990724-38084639	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12243792	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs12243792	ZNF37A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38072000-38083200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr10:38080600-38081800	ZNF genes & repeats	Liver	Liver
3	chr10:38081200-38092000	Weak transcription	Ovary	ovary
4	chr10:38081200-38092200	Weak transcription	Pancreas	Pancrea
5	chr10:38081200-38097200	Weak transcription	Aorta	Aorta
6	chr10:38081600-38083200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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