Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:171710037..171714996-chr1:171734843..171738629,6	MCF-7	breast:
2	chr1:171710965..171713390-chr1:171737904..171740813,3	MCF-7	breast:
3	chr1:171730299..171731843-chr1:171736543..171739308,2	K562	blood:
4	chr1:171709564..171713750-chr1:171736602..171743117,7	K562	blood:
5	chr1:171735538..171739658-chr1:171748409..171750930,4	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10798634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798636	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913644	0.84[EUR][1000 genomes]
rs12028128	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032340	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034454	0.84[EUR][1000 genomes]
rs2232812	0.84[EUR][1000 genomes]
rs2232816	0.84[EUR][1000 genomes]
rs2232818	0.84[EUR][1000 genomes]
rs2232826	0.83[EUR][1000 genomes]
rs2294717	0.84[EUR][1000 genomes]
rs3753538	0.84[EUR][1000 genomes]
rs56178029	0.84[EUR][1000 genomes]
rs60956160	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425405	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542116	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543608	0.84[EUR][1000 genomes]
rs7551037	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7860	0.83[EUR][1000 genomes]
rs909958	0.84[EUR][1000 genomes]
rs941942	0.83[EUR][1000 genomes];0.88[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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6692136	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171735200-171738600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:171736600-171738600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:171737400-171738200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:171737400-171738600	Enhancers	Adipose Nuclei	Adipose
5	chr1:171737600-171738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:171737600-171739200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:171737800-171739200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:171737800-171739200	Enhancers	Fetal Brain Male	brain
9	chr1:171737800-171739200	Enhancers	Fetal Brain Female	brain

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