Variant report

Variant	rs71652684
Chromosome Location	chr1:85373604-85373605
allele	C/G
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:32)

rs_ID	r²[population]
rs11161481	0.93[EUR][1000 genomes]
rs11161483	0.93[EUR][1000 genomes]
rs11161484	0.93[EUR][1000 genomes]
rs12064236	0.93[EUR][1000 genomes]
rs12087537	0.93[EUR][1000 genomes]
rs12117396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12118254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119634	0.96[EUR][1000 genomes]
rs12121228	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12137331	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12139037	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12139520	0.93[EUR][1000 genomes]
rs12140503	0.93[EUR][1000 genomes]
rs12141138	0.93[EUR][1000 genomes]
rs12141913	0.93[EUR][1000 genomes]
rs12143210	0.93[EUR][1000 genomes]
rs12143480	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12143551	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12728965	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12729681	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12756401	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12756966	0.96[EUR][1000 genomes]
rs34160906	0.89[AMR][1000 genomes]
rs34169288	0.87[EUR][1000 genomes]
rs34448848	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35085075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35386532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35999179	0.89[AMR][1000 genomes]
rs36119952	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6664563	0.93[EUR][1000 genomes]
rs6685090	0.93[EUR][1000 genomes]
rs7513686	0.93[EUR][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	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85360200-85382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:85372800-85373800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:85372800-85373800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:85372800-85373800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:85372800-85373800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:85372800-85373800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:85372800-85373800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:85372800-85373800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:85372800-85373800	Enhancers	HMEC	breast
10	chr1:85372800-85373800	Enhancers	NHEK	skin
11	chr1:85373000-85373800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:85373200-85373800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:85373600-85378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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