Variant report

Variant	rs809252
Chromosome Location	chr2:145705148-145705149
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	chr2:145696000..145699095-chr2:145703578..145707289,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10168164	0.92[EUR][1000 genomes]
rs10201023	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210406	0.91[EUR][1000 genomes]
rs1085418	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10928236	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13391247	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422231	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427288	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427617	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1406118	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528187	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550324	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407958	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852654	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881266	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165022	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697042	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697046	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918593	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662407	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662408	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662410	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662412	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727241	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7589880	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596337	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786216	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786238	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs786240	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786259	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786261	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145696200-145708800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:145700000-145705800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:145702600-145708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:145703000-145705200	Weak transcription	HUVEC	blood vessel
5	chr2:145703200-145708400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:145703200-145708400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:145703600-145705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:145703600-145705800	Enhancers	Osteobl	bone
9	chr2:145703600-145706000	Enhancers	HMEC	breast
10	chr2:145703800-145705800	Enhancers	Fetal Lung	lung
11	chr2:145703800-145706000	Enhancers	NHEK	skin
12	chr2:145704200-145708200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:145704200-145708400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:145704200-145708600	Weak transcription	HSMM	muscle
15	chr2:145704400-145708400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:145704400-145709000	Weak transcription	NHLF	lung
17	chr2:145704600-145705200	Weak transcription	A549	lung
18	chr2:145704600-145708600	Weak transcription	NHDF-Ad	bronchial
19	chr2:145704800-145705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:145704800-145705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:145705000-145705400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:145705000-145705400	Weak transcription	Fetal Intestine Small	intestine

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