Variant report

Variant	rs74129414
Chromosome Location	chr1:152218456-152218457
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	chr1:152214610..152216817-chr1:152217355..152219873,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11204983	1.00[EUR][1000 genomes]
rs12057680	1.00[EUR][1000 genomes]
rs12060296	1.00[EUR][1000 genomes]
rs12066296	1.00[EUR][1000 genomes]
rs12067755	1.00[EUR][1000 genomes]
rs12078392	1.00[EUR][1000 genomes]
rs12083959	1.00[EUR][1000 genomes]
rs16833865	1.00[EUR][1000 genomes]
rs16833870	1.00[EUR][1000 genomes]
rs16833876	1.00[EUR][1000 genomes]
rs1858481	1.00[EUR][1000 genomes]
rs28655434	1.00[EUR][1000 genomes]
rs3120654	1.00[EUR][1000 genomes]
rs3126087	1.00[EUR][1000 genomes]
rs3126093	1.00[EUR][1000 genomes]
rs3134871	1.00[EUR][1000 genomes]
rs41363352	1.00[EUR][1000 genomes]
rs56024264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56106510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124007	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56156422	1.00[EUR][1000 genomes]
rs56244386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57272962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57934636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58132665	1.00[EUR][1000 genomes]
rs58788896	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58823849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60525930	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60709044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126309	1.00[AMR][1000 genomes]
rs74126341	1.00[EUR][1000 genomes]
rs74126343	1.00[EUR][1000 genomes]
rs74127703	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127887	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127894	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127895	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127942	1.00[AMR][1000 genomes]
rs74129429	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129507	1.00[AMR][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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv947506	chr1:152203216-152223222	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv159214	chr1:152213931-152223706	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152216600-152218600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:152217000-152218600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:152217600-152220000	Weak transcription	HMEC	breast
4	chr1:152218000-152219800	Weak transcription	NHEK	skin
5	chr1:152218000-152220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:152218200-152220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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