Variant report

Variant	rs7521487
Chromosome Location	chr1:120051639-120051640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12059477	1.00[AMR][1000 genomes]
rs17038370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55786796	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57927355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61628102	1.00[AMR][1000 genomes]
rs6658109	1.00[AMR][1000 genomes]
rs6665975	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6668237	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680519	1.00[AMR][1000 genomes]
rs6685889	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698870	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74113872	1.00[AMR][1000 genomes]
rs74114637	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114639	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114641	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114693	1.00[AMR][1000 genomes]
rs74114694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74117410	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74117411	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74117420	1.00[AMR][1000 genomes]
rs74117422	1.00[AMR][1000 genomes]
rs7545636	1.00[AMR][1000 genomes]
rs7549017	1.00[AMR][1000 genomes]
rs7554121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs874350	1.00[AMR][1000 genomes]
rs9727644	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv524727	chr1:120023971-120056401	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1006564	chr1:120050603-120078534	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120047800-120052200	Weak transcription	HMEC	breast
2	chr1:120048200-120051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:120048200-120052000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:120050800-120053000	Transcr. at gene 5' and 3'	Placenta	Placenta
5	chr1:120051200-120053600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:120051400-120052000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:120051400-120052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:120051600-120053600	Enhancers	NHEK	skin

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