Variant report

Variant	rs12793746
Chromosome Location	chr11:101367985-101367986
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	chr11:101367288..101368830-chr11:101394227..101396283,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11224765	0.91[MKK][hapmap]
rs11224772	1.00[MKK][hapmap]
rs11224773	0.91[MKK][hapmap]
rs11224784	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11224785	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11224805	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11224811	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs11224815	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes]
rs11821584	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11826165	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12270234	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12361641	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12786558	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12786942	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs12787386	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12788461	0.91[MKK][hapmap]
rs12789670	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12791865	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs12792834	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs12796163	0.90[ASN][1000 genomes]
rs12801419	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806241	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34546081	0.90[ASN][1000 genomes]
rs36111323	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61915999	0.90[ASN][1000 genomes]
rs6590866	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs72982229	1.00[AFR][1000 genomes]
rs72984228	1.00[AFR][1000 genomes]
rs7924434	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7924551	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7927664	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7931830	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7932073	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7934021	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7938416	1.00[JPT][hapmap];0.90[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	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv2830219	chr11:101319531-101382967	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv976474	chr11:101364853-101369234	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12793746	MMP8	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101337800-101368200	Weak transcription	Ovary	ovary
2	chr11:101350000-101384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:101359000-101372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:101360000-101369000	Weak transcription	NHDF-Ad	bronchial
5	chr11:101362400-101373400	Weak transcription	Fetal Lung	lung
6	chr11:101363400-101369600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:101367800-101368200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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