Variant report

Variant	rs276243
Chromosome Location	chr5:42060843-42060844
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10037143	0.82[ASN][1000 genomes]
rs10053179	0.86[EUR][1000 genomes]
rs10077609	0.86[EUR][1000 genomes]
rs10078494	0.86[ASN][1000 genomes]
rs1073273	0.86[ASN][1000 genomes]
rs1110874	0.82[ASN][1000 genomes]
rs1119855	0.87[ASN][1000 genomes]
rs12514243	0.86[ASN][1000 genomes]
rs12515833	0.84[ASN][1000 genomes]
rs12517161	0.86[ASN][1000 genomes]
rs1501528	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16872114	0.91[ASN][1000 genomes]
rs17586491	0.94[ASN][1000 genomes]
rs17586526	0.96[ASN][1000 genomes]
rs17586540	0.96[ASN][1000 genomes]
rs202299	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2134102	0.86[ASN][1000 genomes]
rs2161581	0.96[ASN][1000 genomes]
rs276233	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276234	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276235	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs276237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276238	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs276239	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276240	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276241	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs276242	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276246	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276270	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs276277	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276289	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276290	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs276291	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276292	0.85[EUR][1000 genomes]
rs276294	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276306	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276307	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276309	0.94[ASN][1000 genomes]
rs276310	0.85[EUR][1000 genomes]
rs276311	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276314	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs276315	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34226693	0.92[ASN][1000 genomes]
rs3913458	0.86[ASN][1000 genomes]
rs4279375	0.82[ASN][1000 genomes]
rs4342369	0.96[ASN][1000 genomes]
rs4358567	0.96[ASN][1000 genomes]
rs4358568	0.92[ASN][1000 genomes]
rs4401612	0.86[EUR][1000 genomes]
rs4590218	0.96[ASN][1000 genomes]
rs4626371	0.84[ASN][1000 genomes]
rs4957190	0.96[ASN][1000 genomes]
rs4957191	0.96[ASN][1000 genomes]
rs4957192	0.96[ASN][1000 genomes]
rs4957446	0.96[ASN][1000 genomes]
rs4957447	0.96[ASN][1000 genomes]
rs4957449	0.96[ASN][1000 genomes]
rs4957464	0.84[ASN][1000 genomes]
rs58911119	0.84[ASN][1000 genomes]
rs6451589	0.96[ASN][1000 genomes]
rs6451592	0.86[ASN][1000 genomes]
rs666080	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748636	0.89[ASN][1000 genomes]
rs7341123	0.96[ASN][1000 genomes]
rs7708373	0.96[ASN][1000 genomes]
rs7708493	0.96[ASN][1000 genomes]
rs7713544	0.86[ASN][1000 genomes]
rs905097	0.82[ASN][1000 genomes]
rs905098	0.86[EUR][1000 genomes]
rs905099	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs931230	0.84[ASN][1000 genomes]
rs931231	0.88[ASN][1000 genomes]
rs990898	0.86[ASN][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	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
2	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
3	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
4	nsv880627	chr5:41966551-42087954	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1843569	chr5:42008999-42128184	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr5:42058000-42061200	Weak transcription	Adipose Nuclei	Adipose
2	chr5:42059000-42061000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:42059000-42061000	Enhancers	HMEC	breast
4	chr5:42059000-42061000	Enhancers	NHEK	skin
5	chr5:42059000-42061600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:42060000-42061000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:42060800-42062200	Enhancers	Fetal Lung	lung

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