Variant report

Variant	rs12121228
Chromosome Location	chr1:85384206-85384207
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11161481	0.84[EUR][1000 genomes]
rs11161483	0.84[EUR][1000 genomes]
rs11161484	0.84[EUR][1000 genomes]
rs12064236	0.84[EUR][1000 genomes]
rs12087537	0.84[EUR][1000 genomes]
rs12117396	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12118254	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12119634	0.87[EUR][1000 genomes]
rs12137331	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12139037	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12139520	0.84[EUR][1000 genomes]
rs12140503	0.84[EUR][1000 genomes]
rs12141138	0.84[EUR][1000 genomes]
rs12141913	0.84[EUR][1000 genomes]
rs12143210	0.84[EUR][1000 genomes]
rs12143480	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12143551	0.80[EUR][1000 genomes]
rs12728965	0.90[EUR][1000 genomes]
rs12729681	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12756401	0.87[EUR][1000 genomes]
rs12756966	0.87[EUR][1000 genomes]
rs34160906	0.94[AMR][1000 genomes]
rs34448848	0.87[EUR][1000 genomes]
rs35085075	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35386532	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35999179	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36119952	0.87[EUR][1000 genomes]
rs6664563	0.84[EUR][1000 genomes]
rs6685090	0.84[EUR][1000 genomes]
rs71652684	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7513686	0.84[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85379800-85384400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:85379800-85385200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:85381400-85384800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85384200-85384600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:85384200-85384600	Weak transcription	Fetal Kidney	kidney

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