Variant report

Variant	rs4492118
Chromosome Location	chr5:44646625-44646626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209600254..209601838-chr5:44645568..44648419,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1048758	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1061310	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs10805685	0.95[EUR][1000 genomes]
rs10805686	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10941677	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741772	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs11746506	0.81[JPT][hapmap]
rs11949847	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs12188871	0.83[CHB][hapmap]
rs12516900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12522626	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13155698	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs13159598	0.82[JPT][hapmap]
rs13174122	0.82[JPT][hapmap]
rs13177711	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs13189120	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1371025	0.86[JPT][hapmap]
rs1438819	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1438820	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1438827	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1866406	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2013513	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs2218080	0.92[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2218081	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs36068815	0.98[EUR][1000 genomes]
rs3761648	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs3761650	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4321755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4415084	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4415085	0.94[EUR][1000 genomes]
rs4457089	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4463188	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4479849	0.98[EUR][1000 genomes]
rs4571480	0.91[EUR][1000 genomes]
rs4571481	0.81[EUR][1000 genomes]
rs4613718	0.97[ASN][1000 genomes]
rs66996829	0.87[EUR][1000 genomes]
rs6868232	0.82[JPT][hapmap]
rs6872254	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs6890556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896350	0.86[JPT][hapmap]
rs714130	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs727304	0.81[CHB][hapmap]
rs727305	0.83[CHB][hapmap]
rs7701466	0.91[EUR][1000 genomes]
rs7710996	0.81[YRI][hapmap]
rs7716571	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs7717459	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs7720551	0.94[EUR][1000 genomes]
rs7720787	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7723539	0.95[EUR][1000 genomes]
rs7735881	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs920329	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9637783	0.85[JPT][hapmap]

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	nsv830278	chr5:44540863-44713312	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv537742	chr5:44620084-44664039	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv880457	chr5:44632008-44800665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4492118	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44645200-44646800	Enhancers	Fetal Heart	heart
2	chr5:44645600-44654000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:44646200-44646800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:44646400-44649000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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