Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166751208..166754791-chr6:166757264..166760335,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10806847	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10862	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11168	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1997661	0.85[ASN][1000 genomes]
rs2343590	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4470829	0.92[EUR][1000 genomes]
rs4598048	0.93[EUR][1000 genomes]
rs4709112	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4710041	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6902813	0.85[ASN][1000 genomes]
rs6918091	0.81[ASN][1000 genomes]
rs6918901	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6927168	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs735297	0.85[ASN][1000 genomes]
rs7744743	0.81[ASN][1000 genomes]
rs7757549	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9355572	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9355574	0.81[ASN][1000 genomes]
rs9356476	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9356478	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9356479	0.88[AMR][1000 genomes]
rs9366005	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9366006	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9366007	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9459654	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS 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	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6909951	SFT2D1	cis	Whole Blood	GTEx
rs6909951	HNRNPA1P49	cis	lung	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166756800-166758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:166756800-166758600	Enhancers	Placenta	Placenta
3	chr6:166757000-166758400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:166757000-166765200	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:166757000-166765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:166757000-166779200	Weak transcription	Right Atrium	heart
7	chr6:166757200-166758400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:166757200-166760000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:166757200-166761000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:166757400-166759200	Enhancers	K562	blood
11	chr6:166757400-166759800	Weak transcription	Liver	Liver
12	chr6:166757400-166760000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:166757400-166760400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:166757400-166762600	Enhancers	HepG2	liver
15	chr6:166757600-166758600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:166757600-166759800	Weak transcription	Primary monocytes fromperipheralblood	blood

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