Variant report

Variant	rs6806197
Chromosome Location	chr3:150514743-150514744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150512366..150515147-chr3:150518097..150520073,2	K562	blood:
2	chr3:150479452..150483209-chr3:150511861..150516305,5	MCF-7	breast:
3	chr3:150511520..150513316-chr3:150514355..150516169,2	K562	blood:

Variant related genes	Relation type
ENSG00000244265	Chromatin interaction
ENSG00000181788	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1373418	0.87[EUR][1000 genomes]
rs1444197	0.93[EUR][1000 genomes]
rs16862842	0.93[EUR][1000 genomes]
rs16862858	0.82[EUR][1000 genomes]
rs1814463	0.87[EUR][1000 genomes]
rs1814464	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1838337	0.93[EUR][1000 genomes]
rs1915365	0.93[EUR][1000 genomes]
rs2014279	0.87[EUR][1000 genomes]
rs2018246	0.87[EUR][1000 genomes]
rs2869479	0.82[EUR][1000 genomes]
rs34348847	0.87[EUR][1000 genomes]
rs34771595	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3851356	0.87[EUR][1000 genomes]
rs41354246	0.87[EUR][1000 genomes]
rs41372346	0.93[EUR][1000 genomes]
rs41454348	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57278175	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57869178	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58403524	0.93[EUR][1000 genomes]
rs58418105	0.85[EUR][1000 genomes]
rs60259684	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60523415	0.93[EUR][1000 genomes]
rs6440696	0.87[EUR][1000 genomes]
rs6440697	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440698	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6769917	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6777178	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6795396	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6803830	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6805481	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71764080	0.93[EUR][1000 genomes]
rs72993403	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73003787	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73003792	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73005814	0.82[EUR][1000 genomes]
rs73010941	0.87[EUR][1000 genomes]
rs73010947	1.00[EUR][1000 genomes]
rs73010956	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73010964	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73010965	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73010967	0.93[EUR][1000 genomes]
rs73869297	1.00[EUR][1000 genomes]
rs7617507	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7628481	1.00[EUR][1000 genomes]
rs7628776	0.87[AMR][1000 genomes];0.87[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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6806197	EPM2AIP1	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150509800-150518400	Weak transcription	Aorta	Aorta
2	chr3:150511600-150518800	Enhancers	Placenta	Placenta
3	chr3:150512200-150516000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:150512600-150515600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:150513800-150516000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:150514200-150515800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:150514200-150516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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