Variant report

Variant	rs594164
Chromosome Location	chr6:11500818-11500819
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5001504..5004136-chr6:11500081..11502077,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124787	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10807114	0.80[ASN][1000 genomes]
rs10807115	0.80[ASN][1000 genomes]
rs10947398	0.87[ASN][1000 genomes]
rs11752836	0.89[ASN][1000 genomes]
rs11755780	0.80[ASN][1000 genomes]
rs12192094	0.80[ASN][1000 genomes]
rs12194771	0.87[ASN][1000 genomes]
rs12198765	0.80[ASN][1000 genomes]
rs12198774	0.80[ASN][1000 genomes]
rs12198950	0.80[ASN][1000 genomes]
rs12200391	0.80[ASN][1000 genomes]
rs12200454	0.80[ASN][1000 genomes]
rs12528839	0.89[ASN][1000 genomes]
rs145176	0.87[ASN][1000 genomes]
rs1522446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs16871392	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1923525	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2025184	0.80[ASN][1000 genomes]
rs2025185	0.80[ASN][1000 genomes]
rs2758307	0.89[ASN][1000 genomes]
rs2807964	0.89[ASN][1000 genomes]
rs295051	0.82[ASN][1000 genomes]
rs3857556	0.86[ASN][1000 genomes]
rs4711306	0.80[ASN][1000 genomes]
rs4713618	0.86[ASN][1000 genomes]
rs480684	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs486127	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs487729	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs490327	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs505685	0.88[ASN][1000 genomes]
rs505839	0.86[ASN][1000 genomes]
rs513870	0.88[YRI][hapmap];0.80[EUR][1000 genomes]
rs518183	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs528012	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs528087	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs533319	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562508	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs568867	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs570714	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs575164	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs586117	0.80[ASN][1000 genomes]
rs588062	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs588948	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs595877	0.82[ASN][1000 genomes]
rs601505	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs609135	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs616729	0.89[ASN][1000 genomes]
rs617157	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs618573	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs618998	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs620729	0.88[YRI][hapmap]
rs620867	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs623024	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs651001	0.85[ASN][1000 genomes]
rs671048	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6900342	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6900564	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6900578	1.00[CHB][hapmap]
rs6900740	1.00[CHB][hapmap]
rs6901328	0.80[ASN][1000 genomes]
rs6904400	0.87[EUR][1000 genomes]
rs6907796	0.80[ASN][1000 genomes]
rs6908807	0.87[ASN][1000 genomes]
rs6916089	0.91[ASN][1000 genomes]
rs6930371	0.88[ASN][1000 genomes]
rs6932324	0.87[ASN][1000 genomes]
rs6941011	0.80[ASN][1000 genomes]
rs7756513	1.00[CHB][hapmap]
rs7770004	0.89[ASN][1000 genomes]
rs926314	1.00[CHB][hapmap]
rs9348895	0.80[ASN][1000 genomes]
rs9348896	0.80[ASN][1000 genomes]
rs9357150	0.87[EUR][1000 genomes]
rs9357154	0.80[ASN][1000 genomes]
rs9366806	0.80[ASN][1000 genomes]
rs9394117	0.80[ASN][1000 genomes]
rs9394123	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9394146	0.86[ASN][1000 genomes]
rs9394154	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs594164	TMEM170B	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11499800-11501000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:11500000-11501000	Enhancers	Osteobl	bone

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