Variant report

Variant	rs60500053
Chromosome Location	chr1:152917419-152917420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10494280	1.00[EUR][1000 genomes]
rs10494288	1.00[EUR][1000 genomes]
rs10888519	1.00[ASN][1000 genomes]
rs10888521	1.00[EUR][1000 genomes]
rs11205126	1.00[EUR][1000 genomes]
rs11205130	1.00[EUR][1000 genomes]
rs11205147	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11205183	1.00[EUR][1000 genomes]
rs11806470	1.00[EUR][1000 genomes]
rs12021601	1.00[EUR][1000 genomes]
rs12022870	1.00[EUR][1000 genomes]
rs12023643	1.00[EUR][1000 genomes]
rs12024694	1.00[EUR][1000 genomes]
rs12027303	0.97[ASN][1000 genomes]
rs12029192	1.00[EUR][1000 genomes]
rs12032522	1.00[EUR][1000 genomes]
rs12036697	1.00[EUR][1000 genomes]
rs12037754	1.00[EUR][1000 genomes]
rs12047099	1.00[EUR][1000 genomes]
rs12047225	1.00[EUR][1000 genomes]
rs12047630	1.00[EUR][1000 genomes]
rs12047888	1.00[EUR][1000 genomes]
rs12239812	1.00[EUR][1000 genomes]
rs1415973	1.00[EUR][1000 genomes]
rs16834746	1.00[EUR][1000 genomes]
rs16834838	1.00[EUR][1000 genomes]
rs16834871	1.00[EUR][1000 genomes]
rs1846857	1.00[EUR][1000 genomes]
rs1974141	1.00[EUR][1000 genomes]
rs1995307	1.00[EUR][1000 genomes]
rs2339383	1.00[EUR][1000 genomes]
rs2339501	1.00[EUR][1000 genomes]
rs28647391	1.00[EUR][1000 genomes]
rs36090881	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737862	1.00[EUR][1000 genomes]
rs3856020	1.00[EUR][1000 genomes]
rs4041337	1.00[EUR][1000 genomes]
rs4041340	1.00[EUR][1000 genomes]
rs4240863	1.00[EUR][1000 genomes]
rs4240864	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845328	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4845498	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58021079	1.00[EUR][1000 genomes]
rs58290373	1.00[EUR][1000 genomes]
rs59837747	1.00[EUR][1000 genomes]
rs61482767	1.00[EUR][1000 genomes]
rs61491150	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6668295	1.00[EUR][1000 genomes]
rs72480203	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv831592	chr1:152815054-152997162	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv998873	chr1:152869127-152975258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152914800-152918400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152914800-152918400	Weak transcription	NHEK	skin
3	chr1:152915000-152917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:152916400-152920800	Weak transcription	HMEC	breast
5	chr1:152916600-152918400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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