Variant report

Variant	rs12742875
Chromosome Location	chr1:84313288-84313289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1010436	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10437027	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10489500	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10489505	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12728131	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12728368	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12735437	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12736562	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12744687	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12744886	0.90[EUR][1000 genomes]
rs12746729	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12748928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12754424	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1324487	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1569748	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17520771	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17521573	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17521594	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17521713	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17522440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17578175	0.86[AMR][1000 genomes]
rs17580638	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17580799	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17581022	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2143757	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2147391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34561331	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35260485	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35531285	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35729141	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35906154	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36120300	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71652653	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71652654	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523508	chr1:84310193-84314754	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84281400-84316600	Weak transcription	Pancreas	Pancrea
2	chr1:84310800-84324400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:84311000-84314200	Enhancers	Fetal Intestine Large	intestine
4	chr1:84311200-84315200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:84311200-84315600	Weak transcription	Small Intestine	intestine
6	chr1:84311200-84321200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:84311400-84323800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:84311800-84316400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:84312200-84313400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:84312200-84316000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:84312200-84316400	Weak transcription	Liver	Liver
12	chr1:84312400-84322600	Weak transcription	Fetal Brain Female	brain
13	chr1:84312600-84315400	Weak transcription	Fetal Brain Male	brain

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