Variant report

Variant	rs9375927
Chromosome Location	chr6:133187185-133187186
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	chr6:133184927..133187651-chr6:133189830..133192430,2	K562	blood:

Variant related genes	Relation type
ENSG00000220557	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1001018	0.81[ASN][1000 genomes]
rs1009687	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10872399	0.82[ASN][1000 genomes]
rs11154696	0.84[MEX][hapmap]
rs12202302	0.94[CHD][hapmap];0.86[GIH][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap]
rs1408065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs271110	0.82[AMR][1000 genomes]
rs271112	0.83[AMR][1000 genomes]
rs271179	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs397139	0.81[AMR][1000 genomes]
rs4895945	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4897619	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528694	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6569855	0.80[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6907421	0.80[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs6921262	0.85[ASN][1000 genomes]
rs6926466	0.94[CHD][hapmap];0.86[GIH][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap]
rs6927761	0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs761125	0.84[CHD][hapmap];0.81[GIH][hapmap];0.80[JPT][hapmap]
rs7740291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7768053	0.80[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.81[ASN][1000 genomes]
rs7768634	0.80[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7774585	0.80[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap]
rs9321378	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9321379	0.81[ASN][1000 genomes]
rs9373033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9385624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389035	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9402461	0.85[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.81[ASN][1000 genomes]
rs9402465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493451	0.85[JPT][hapmap]
rs9493458	0.83[CHD][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap]
rs9493459	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9493464	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9493468	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9375927	LOC285735	cis	parietal	SCAN
rs9375927	ACA33	cis	multi-tissue	Pritchard
rs9375927	SNORA33	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133185200-133187200	Enhancers	GM12878-XiMat	blood
2	chr6:133185800-133188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:133186600-133187800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:133186600-133187800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:133186600-133187800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:133186600-133187800	Weak transcription	Fetal Heart	heart
7	chr6:133186600-133188000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:133186600-133188200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:133186800-133187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:133186800-133187800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:133186800-133187800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:133186800-133188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:133186800-133188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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