Variant report

Variant	rs12143501
Chromosome Location	chr1:171853449-171853450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171851085..171853826-chr1:171859070..171862052,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12121064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12123946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12130277	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12133814	0.80[ASN][1000 genomes]
rs12135871	0.86[ASN][1000 genomes]
rs12136630	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137824	0.86[ASN][1000 genomes]
rs12137825	0.86[ASN][1000 genomes]
rs12140482	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140603	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12141726	0.86[ASN][1000 genomes]
rs12141865	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421949	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817923	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61805807	0.86[ASN][1000 genomes]
rs6673009	0.86[ASN][1000 genomes]
rs74126507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126515	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7543247	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171844400-171858200	Weak transcription	Left Ventricle	heart
2	chr1:171847800-171853600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:171849800-171853600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:171851000-171853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:171852400-171854000	Enhancers	Fetal Thymus	thymus
6	chr1:171852800-171853800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:171852800-171854200	Enhancers	GM12878-XiMat	blood
8	chr1:171853000-171853800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:171853000-171854200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:171853000-171854200	Enhancers	Brain Substantia Nigra	brain
11	chr1:171853000-171854200	Enhancers	Dnd41	blood
12	chr1:171853000-171854400	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:171853000-171854400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:171853000-171855200	Enhancers	Brain Hippocampus Middle	brain
15	chr1:171853200-171854400	Enhancers	Brain Angular Gyrus	brain
16	chr1:171853400-171854000	Enhancers	Thymus	Thymus
17	chr1:171853400-171854200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:171853400-171854400	Enhancers	HMEC	breast

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