Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33420752..33423380-chr6:33456463..33458744,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213588	Chromatin interaction

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11757273	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12204193	0.90[ASN][1000 genomes]
rs1613451	0.96[ASN][1000 genomes]
rs1755045	0.86[ASN][1000 genomes]
rs1755046	0.87[ASN][1000 genomes]
rs1755047	0.96[ASN][1000 genomes]
rs1755048	0.82[ASN][1000 genomes]
rs1755049	0.86[ASN][1000 genomes]
rs2076775	0.80[ASN][1000 genomes]
rs2247385	0.81[ASN][1000 genomes]
rs2274730	0.91[ASN][1000 genomes]
rs2480487	0.98[ASN][1000 genomes]
rs2772373	0.94[ASN][1000 genomes]
rs2772375	0.88[ASN][1000 genomes]
rs2772376	0.81[ASN][1000 genomes]
rs2772387	0.98[ASN][1000 genomes]
rs2772389	0.80[ASN][1000 genomes]
rs2772390	0.96[ASN][1000 genomes]
rs2772391	0.88[ASN][1000 genomes]
rs2772392	0.97[ASN][1000 genomes]
rs3117320	0.81[ASN][1000 genomes]
rs3130025	0.98[ASN][1000 genomes]
rs371005	0.86[ASN][1000 genomes]
rs376006	0.84[ASN][1000 genomes]
rs442745	0.90[ASN][1000 genomes]
rs453590	0.81[ASN][1000 genomes]
rs456993	0.84[ASN][1000 genomes]
rs459927	0.80[ASN][1000 genomes]
rs461887	0.83[ASN][1000 genomes]
rs4620113	0.90[ASN][1000 genomes]
rs465474	0.84[ASN][1000 genomes]
rs465877	0.81[ASN][1000 genomes]
rs4713625	0.88[ASN][1000 genomes]
rs66840884	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366822	0.87[ASN][1000 genomes]
rs9380355	0.91[ASN][1000 genomes]
rs9394150	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461856	0.82[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	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
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9357159	TAPBP	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33453000-33474000	Weak transcription	Right Atrium	heart
2	chr6:33453400-33458200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:33453400-33458200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:33455600-33456600	Enhancers	Fetal Intestine Large	intestine
5	chr6:33456400-33456600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr6:33456400-33456600	Flanking Active TSS	K562	blood
7	chr6:33456400-33458200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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