Variant report

Variant	rs12265979
Chromosome Location	chr10:38094540-38094541
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38092192..38094710-chr10:38111605..38114587,2	K562	blood:
2	chr10:38092650..38094653-chr10:38146551..38148241,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198105	Chromatin interaction
ENSG00000236514	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10508861	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11011371	0.87[EUR][1000 genomes]
rs12243792	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12412402	0.90[EUR][1000 genomes]
rs12413854	0.85[EUR][1000 genomes]
rs16937571	0.85[EUR][1000 genomes]
rs200907	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs200909	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs200913	0.83[EUR][1000 genomes]
rs200914	0.81[EUR][1000 genomes]
rs200944	0.90[CEU][hapmap]
rs3739992	0.88[EUR][1000 genomes]
rs3920554	0.82[EUR][1000 genomes]
rs55738335	0.85[EUR][1000 genomes]
rs55742761	0.92[EUR][1000 genomes]
rs57430818	0.81[ASN][1000 genomes]
rs58906790	0.82[ASN][1000 genomes]
rs59486180	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67276704	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68087889	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7068885	0.85[EUR][1000 genomes]
rs72789877	0.82[ASN][1000 genomes]
rs72789892	0.89[ASN][1000 genomes]
rs72791720	0.99[ASN][1000 genomes]
rs72791726	0.96[ASN][1000 genomes]
rs72791727	0.96[ASN][1000 genomes]
rs72791730	0.85[ASN][1000 genomes]
rs766362	0.95[CEU][hapmap]
rs7895468	0.95[CEU][hapmap]
rs7906186	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[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	nsv982874	chr10:38092839-38111415	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12265979	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs12265979	ZNF37A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38081200-38097200	Weak transcription	Aorta	Aorta
2	chr10:38085400-38100800	Weak transcription	Left Ventricle	heart
3	chr10:38087400-38094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:38090400-38101000	Weak transcription	HepG2	liver
5	chr10:38090800-38102200	Weak transcription	Brain Angular Gyrus	brain
6	chr10:38091800-38102400	Weak transcription	Brain Anterior Caudate	brain
7	chr10:38092600-38105000	Weak transcription	Pancreas	Pancrea
8	chr10:38093000-38095200	Weak transcription	Adipose Nuclei	Adipose
9	chr10:38093000-38095400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:38093000-38098800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:38093000-38102200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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