Variant report

Variant	rs1023634
Chromosome Location	chr2:152162843-152162844
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	chr2:152157470..152161294-chr2:152162046..152164372,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10167886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10176271	0.86[EUR][1000 genomes]
rs10490522	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10490523	0.85[AMR][1000 genomes]
rs11679466	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12465426	0.85[AMR][1000 genomes]
rs12617724	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2278089	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2551671	0.84[AMR][1000 genomes]
rs2880489	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs289828	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs289835	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34132424	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35058039	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs387297	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3936325	0.82[ASN][1000 genomes]
rs403411	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4664021	0.96[ASN][1000 genomes]
rs4664357	0.85[EUR][1000 genomes]
rs6715393	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6715902	0.84[ASN][1000 genomes]
rs6719213	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7574216	0.96[ASN][1000 genomes]
rs7585805	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9636292	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1023634	NMI	Cis_1M	lymphoblastoid	RTeQTL
rs1023634	TNFAIP6	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152159400-152164800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr2:152159600-152163200	Weak transcription	NH-A	brain
3	chr2:152160000-152163000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:152160000-152163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:152160000-152163000	Weak transcription	NHDF-Ad	bronchial
6	chr2:152160000-152163000	Weak transcription	Osteobl	bone
7	chr2:152160000-152163200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:152160000-152163400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:152160000-152163400	Weak transcription	NHLF	lung
10	chr2:152162000-152163600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:152162200-152163200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:152162400-152163400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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