Variant report

Variant	rs74134715
Chromosome Location	chr1:186629008-186629009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186628635..186630294-chr1:186633916..186635538,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16825618	1.00[EUR][1000 genomes]
rs16825688	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3851883	1.00[EUR][1000 genomes]
rs3918304	1.00[EUR][1000 genomes]
rs41393449	1.00[EUR][1000 genomes]
rs4648274	1.00[EUR][1000 genomes]
rs56294639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56693185	1.00[EUR][1000 genomes]
rs57219691	1.00[EUR][1000 genomes]
rs57550992	1.00[EUR][1000 genomes]
rs58362718	1.00[EUR][1000 genomes]
rs58767753	1.00[EUR][1000 genomes]
rs61403154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61516014	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6661312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6672847	1.00[EUR][1000 genomes]
rs6675113	1.00[EUR][1000 genomes]
rs6702184	1.00[EUR][1000 genomes]
rs689470	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134717	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs74134719	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134721	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74134723	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520374	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7555943	1.00[EUR][1000 genomes]
rs9803769	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186621800-186630400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:186625400-186630400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:186626600-186629200	Enhancers	Hela-S3	cervix
4	chr1:186626600-186629200	Enhancers	HMEC	breast
5	chr1:186626600-186629600	Enhancers	NHEK	skin
6	chr1:186626800-186629600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:186626800-186632800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:186627200-186629600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:186628200-186629200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:186628400-186631400	Weak transcription	HUVEC	blood vessel

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