Variant report

Variant	rs10930823
Chromosome Location	chr2:179028726-179028727
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10197166	0.93[JPT][hapmap]
rs10930827	0.81[JPT][hapmap];0.84[MEX][hapmap]
rs12185670	0.88[JPT][hapmap]
rs12471750	0.92[ASN][1000 genomes]
rs12476671	0.86[JPT][hapmap]
rs13013858	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13390231	0.94[AFR][1000 genomes]
rs13403689	0.87[JPT][hapmap]
rs17638592	0.82[ASN][1000 genomes]
rs186736	0.80[JPT][hapmap]
rs232042	0.89[ASN][1000 genomes]
rs2366157	0.93[JPT][hapmap]
rs2366365	0.83[ASN][1000 genomes]
rs3099472	0.87[ASN][1000 genomes]
rs333992	0.81[JPT][hapmap]
rs333993	0.81[JPT][hapmap]
rs333996	0.81[JPT][hapmap]
rs334002	0.87[JPT][hapmap]
rs334005	0.81[JPT][hapmap]
rs334007	0.81[JPT][hapmap]
rs334009	0.84[JPT][hapmap]
rs334013	0.87[JPT][hapmap]
rs334014	0.87[JPT][hapmap]
rs334017	0.81[JPT][hapmap]
rs334024	0.81[JPT][hapmap]
rs334035	0.93[JPT][hapmap]
rs334037	0.80[JPT][hapmap]
rs334040	0.81[JPT][hapmap]
rs334042	0.81[JPT][hapmap]
rs334045	0.81[JPT][hapmap]
rs334081	0.89[ASN][1000 genomes]
rs334092	0.85[ASN][1000 genomes]
rs334094	0.86[ASN][1000 genomes]
rs334102	0.88[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs334103	0.82[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs334110	0.87[JPT][hapmap]
rs334115	0.84[ASN][1000 genomes]
rs334116	0.87[ASN][1000 genomes]
rs334117	0.83[ASN][1000 genomes]
rs334122	0.83[ASN][1000 genomes]
rs334125	0.87[ASN][1000 genomes]
rs334126	0.86[ASN][1000 genomes]
rs334128	0.81[ASN][1000 genomes]
rs334132	0.86[ASN][1000 genomes]
rs334133	0.84[ASN][1000 genomes]
rs35480930	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs407528	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs437385	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs437523	0.86[ASN][1000 genomes]
rs4894000	0.94[AFR][1000 genomes]
rs4894001	0.90[ASN][1000 genomes]
rs6719178	0.93[JPT][hapmap]
rs7419749	0.81[JPT][hapmap]
rs7581504	0.87[JPT][hapmap]
rs7589907	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591476	0.90[ASN][1000 genomes]
rs7595650	0.85[ASN][1000 genomes]
rs930191	0.89[ASN][1000 genomes]
rs9989738	0.87[JPT][hapmap]

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10930823	FKBP7	cis	parietal	SCAN
rs10930823	HOXD11	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179028000-179029000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr2:179028600-179028800	Enhancers	Osteobl	bone
3	chr2:179028600-179029200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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