Variant report

Variant	rs786239
Chromosome Location	chr2:145708585-145708586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145706300..145709031-chr2:145712643..145714364,2	K562	blood:
2	chr2:145701982..145703622-chr2:145707217..145709192,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13009019	0.80[EUR][1000 genomes]
rs1371046	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968526	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2056751	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2165021	0.91[ASN][1000 genomes]
rs2579022	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6707062	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786218	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs786222	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs786228	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs786229	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs786242	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs786244	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs786247	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs786248	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs786252	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs786253	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs786257	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs786260	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs786272	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs812530	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs813684	0.92[EUR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145696200-145708800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:145702600-145708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:145704200-145708600	Weak transcription	HSMM	muscle
4	chr2:145704400-145709000	Weak transcription	NHLF	lung
5	chr2:145704600-145708600	Weak transcription	NHDF-Ad	bronchial
6	chr2:145705600-145709400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:145705800-145708600	Weak transcription	A549	lung
8	chr2:145706200-145708600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:145706400-145710800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:145706600-145710800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:145708200-145709200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:145708200-145709600	Enhancers	NHEK	skin
13	chr2:145708200-145709800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:145708400-145708600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:145708400-145708800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:145708400-145709200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:145708400-145709200	Enhancers	Osteobl	bone
18	chr2:145708400-145709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:145708400-145709800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:145708400-145710000	Enhancers	HMEC	breast

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