Variant report

Variant	rs9472534
Chromosome Location	chr6:45607265-45607266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45606805..45609759-chr6:45609969..45613635,3	K562	blood:
2	chr6:45606210..45607999-chr6:45616386..45618102,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12661124	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12663210	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12665637	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1491142	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16873543	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16873554	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2020084	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56083876	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60540355	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6458450	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6458454	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6458455	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6899443	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7744486	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7758915	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7759415	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9296462	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9296463	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9463108	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9472524	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9472525	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9472530	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9472531	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45595000-45607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:45599200-45607400	Weak transcription	NHDF-Ad	bronchial
3	chr6:45599400-45607400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:45599400-45607600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:45599600-45607600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:45604600-45609800	Weak transcription	Fetal Intestine Small	intestine
7	chr6:45605000-45607400	Weak transcription	NHLF	lung
8	chr6:45605000-45608600	Enhancers	HSMM	muscle
9	chr6:45605600-45607800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:45605600-45607800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:45606000-45607400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:45606000-45607600	Weak transcription	Fetal Stomach	stomach
13	chr6:45606200-45607400	Weak transcription	Osteobl	bone
14	chr6:45606400-45607800	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:45606600-45607600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:45606600-45608400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:45607000-45608800	Enhancers	Placenta Amnion	Placenta Amnion

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