Variant report

Variant	rs2451141
Chromosome Location	chr8:119155611-119155612
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119124083..119125596-chr8:119154597..119157525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1457201	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1563564	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17451678	0.87[EUR][1000 genomes]
rs17477678	0.82[AFR][1000 genomes]
rs2445912	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445915	1.00[TSI][hapmap]
rs2445923	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2451143	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2451167	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2468139	0.83[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap]
rs2468140	0.83[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2468144	1.00[TSI][hapmap]
rs2468145	1.00[TSI][hapmap]
rs2468153	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2468154	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2468155	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514760	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2514761	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2514762	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7012942	0.87[AFR][1000 genomes]
rs7016032	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119151000-119155800	Enhancers	NHLF	lung
2	chr8:119151200-119158000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:119151600-119157200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:119151800-119156600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:119152000-119156400	Enhancers	HMEC	breast
6	chr8:119152200-119156200	Enhancers	Hela-S3	cervix
7	chr8:119152200-119157800	Enhancers	NHEK	skin
8	chr8:119152200-119158000	Weak transcription	Lung	lung
9	chr8:119152400-119157200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:119154000-119156400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:119154400-119156400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:119154600-119155800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:119154600-119155800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:119154600-119155800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:119154600-119155800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:119155200-119156400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:119155200-119157400	Weak transcription	Fetal Lung	lung
18	chr8:119155600-119155800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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