Variant report

Variant	rs447187
Chromosome Location	chr1:153029961-153029962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1147756	1.00[EUR][1000 genomes]
rs12046394	0.87[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs12047187	0.98[EUR][1000 genomes]
rs1591735	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs167452	0.98[EUR][1000 genomes]
rs16834853	1.00[CEU][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs16834886	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs310096	0.98[EUR][1000 genomes]
rs310097	0.86[CEU][hapmap];0.98[EUR][1000 genomes]
rs310098	0.87[CEU][hapmap];0.98[EUR][1000 genomes]
rs310099	0.98[EUR][1000 genomes]
rs310100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310101	0.87[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs310104	0.98[EUR][1000 genomes]
rs310106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310111	0.89[EUR][1000 genomes]
rs310112	0.95[EUR][1000 genomes]
rs310113	0.95[EUR][1000 genomes]
rs310116	0.95[EUR][1000 genomes]
rs310117	0.87[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs310121	0.80[EUR][1000 genomes]
rs310125	0.98[EUR][1000 genomes]
rs367220	0.98[EUR][1000 genomes]
rs373451	0.87[CEU][hapmap];0.98[EUR][1000 genomes]
rs374170	0.87[CEU][hapmap];0.98[EUR][1000 genomes]
rs377182	0.87[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs399274	0.98[EUR][1000 genomes]
rs442209	0.98[EUR][1000 genomes]
rs516145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56905475	0.95[EUR][1000 genomes]
rs576793	0.98[EUR][1000 genomes]
rs58131007	1.00[EUR][1000 genomes]
rs588449	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58888619	1.00[EUR][1000 genomes]
rs593671	0.98[EUR][1000 genomes]
rs59669807	1.00[EUR][1000 genomes]
rs60716459	1.00[EUR][1000 genomes]
rs634639	0.95[EUR][1000 genomes]
rs649269	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs73016350	1.00[EUR][1000 genomes]
rs7415378	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7525198	0.98[EUR][1000 genomes]
rs7541720	0.85[CEU][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS 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 miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv1003756	chr1:152944201-153044621	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv3424702	chr1:153015726-153032343	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153019400-153030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153028400-153030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:153028600-153030000	Active TSS	Esophagus	oesophagus
4	chr1:153029000-153030400	Weak transcription	K562	blood
5	chr1:153029800-153030200	Enhancers	GM12878-XiMat	blood
6	chr1:153029800-153030600	Enhancers	HMEC	breast
7	chr1:153029800-153032400	Enhancers	NHEK	skin

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