Variant report

Variant	rs885916
Chromosome Location	chr6:30202571-30202572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr6:30202253-30202584	GM12878	blood:	n/a	chr6:30202505-30202519

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30200513..30202643-chr6:30293738..30295917,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM26-2	chr6:30201166-30203164	ucscGeneNc_uc003npj_2

Variant related genes	Relation type
HCG17	TF binding region
TRIM26BP	TF binding region
ENSG00000231074	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs2188100	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517612	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2517613	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2517615	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2517618	0.91[EUR][1000 genomes]
rs2523715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2523719	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2523720	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2844770	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2844771	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2844772	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2844773	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2844785	0.86[EUR][1000 genomes]
rs3094070	0.82[EUR][1000 genomes]
rs3094071	0.82[EUR][1000 genomes]
rs3094072	0.82[EUR][1000 genomes]
rs3094073	0.82[EUR][1000 genomes]
rs3094074	0.82[EUR][1000 genomes]
rs3094077	0.82[EUR][1000 genomes]
rs3094629	0.82[EUR][1000 genomes]
rs3094630	0.82[EUR][1000 genomes]
rs3094632	0.82[EUR][1000 genomes]
rs3129697	0.82[EUR][1000 genomes]
rs3129699	0.82[EUR][1000 genomes]
rs3129700	0.82[EUR][1000 genomes]
rs3129701	0.82[EUR][1000 genomes]
rs3129702	0.82[EUR][1000 genomes]
rs3129703	0.82[EUR][1000 genomes]
rs3129704	0.81[EUR][1000 genomes]
rs3129705	0.82[EUR][1000 genomes]
rs3129706	0.84[EUR][1000 genomes]
rs3129707	0.82[EUR][1000 genomes]
rs3129708	0.81[EUR][1000 genomes]
rs3129831	0.81[EUR][1000 genomes]
rs3129832	0.81[EUR][1000 genomes]
rs3129835	0.84[EUR][1000 genomes]
rs3129836	0.84[EUR][1000 genomes]
rs3129837	0.80[EUR][1000 genomes]
rs3129840	0.80[EUR][1000 genomes]
rs3130398	0.82[EUR][1000 genomes]
rs3130400	0.82[EUR][1000 genomes]
rs3130401	0.82[EUR][1000 genomes]
rs3130403	0.82[EUR][1000 genomes]
rs3130404	0.82[EUR][1000 genomes]
rs3130405	0.82[EUR][1000 genomes]
rs3132650	0.80[EUR][1000 genomes]
rs3132655	0.82[EUR][1000 genomes]
rs3132656	0.82[EUR][1000 genomes]
rs3132657	0.82[EUR][1000 genomes]
rs3132658	0.82[EUR][1000 genomes]
rs3132659	0.82[EUR][1000 genomes]
rs885913	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9261614	1.00[ASN][1000 genomes]
rs9261629	0.82[EUR][1000 genomes]
rs9261630	0.82[EUR][1000 genomes]
rs929157	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv884060	chr6:30190640-30203602	Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs885916	ZNF192	cis	parietal	SCAN
rs885916	HLA-H	cis	multi-tissue	Pritchard
rs885916	ZKSCAN3	cis	parietal	SCAN
rs885916	BTN3A2	cis	multi-tissue	Pritchard
rs885916	ZNF323	cis	parietal	SCAN
rs885916	HLA-DQA1	cis	multi-tissue	Pritchard
rs885916	HLA-G	cis	multi-tissue	Pritchard
rs885916	HLA-C	cis	multi-tissue	Pritchard
rs885916	HLA-A	cis	multi-tissue	Pritchard
rs885916	BTN2A1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30201400-30203000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:30202000-30202600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr6:30202000-30202600	Flanking Active TSS	Fetal Lung	lung
4	chr6:30202200-30202600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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