Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:33238834..33242273-chr6:33348728..33351900,3	K562	blood:
2	chr6:33312611..33314569-chr6:33348124..33350169,2	K562	blood:
3	chr6:33254790..33256501-chr6:33349050..33351676,2	K562	blood:
4	chr6:33287030..33291405-chr6:33349040..33354148,5	MCF-7	breast:

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

rs_ID	r²[population]
rs1755045	0.84[ASN][1000 genomes]
rs1755048	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2076775	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs211449	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs211450	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs211453	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs211456	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2247385	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2747479	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2772375	0.83[ASN][1000 genomes]
rs2772376	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2772389	0.85[ASN][1000 genomes]
rs2772391	0.81[ASN][1000 genomes]
rs3117320	0.81[ASN][1000 genomes]
rs3130007	0.86[ASN][1000 genomes]
rs3130015	0.85[ASN][1000 genomes]
rs411136	0.87[ASN][1000 genomes]
rs453590	0.90[ASN][1000 genomes]
rs461964	0.83[ASN][1000 genomes]
rs465223	0.83[ASN][1000 genomes]
rs465506	0.83[ASN][1000 genomes]
rs4711325	0.87[ASN][1000 genomes]
rs4713625	0.81[ASN][1000 genomes]
rs7382303	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9461856	0.80[ASN][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	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers 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 miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2747477	HLA-DPA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33341000-33352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33341200-33358600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:33343800-33350200	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:33343800-33359200	Weak transcription	Right Atrium	heart
5	chr6:33344000-33350200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:33344000-33351800	Weak transcription	Esophagus	oesophagus
7	chr6:33344400-33350000	Weak transcription	Placenta	Placenta
8	chr6:33345600-33358800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:33347800-33350200	Enhancers	K562	blood
10	chr6:33348400-33358800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:33348600-33352600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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