Variant report

Variant	rs12073039
Chromosome Location	chr1:194013928-194013929
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10157295	0.94[ASN][1000 genomes]
rs10429908	0.88[ASN][1000 genomes]
rs10801283	0.98[EUR][1000 genomes]
rs10921484	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10921488	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921489	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921490	0.87[ASN][1000 genomes]
rs10921492	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12028846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12755187	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1323088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1323089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13374626	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1442422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1830680	0.86[EUR][1000 genomes]
rs34143337	0.86[ASN][1000 genomes]
rs4657898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4657899	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4657901	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs488612	0.84[CEU][hapmap]
rs597957	0.85[EUR][1000 genomes]
rs677459	0.85[EUR][1000 genomes]
rs7521863	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9943286	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194010200-194014000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:194010200-194020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:194012800-194014400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:194013000-194014600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:194013000-194015200	Enhancers	NHEK	skin
6	chr1:194013200-194014200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:194013200-194014200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:194013200-194014200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:194013200-194014400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:194013200-194014400	Enhancers	Primary T cells from cord blood	blood
11	chr1:194013200-194014400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:194013200-194016600	Enhancers	Hela-S3	cervix
13	chr1:194013600-194014200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:194013600-194014200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:194013800-194014400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:194013800-194015000	Enhancers	A549	lung

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