Variant report

Variant	rs787427
Chromosome Location	chr2:145848651-145848652
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	chr2:145846784..145849563-chr2:145851350..145854349,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1006923	0.80[ASN][1000 genomes]
rs10206585	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10928241	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1125128	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12474485	0.90[ASN][1000 genomes]
rs12476923	0.90[ASN][1000 genomes]
rs12477111	0.80[ASN][1000 genomes]
rs12691704	0.90[ASN][1000 genomes]
rs12992411	0.80[ASN][1000 genomes]
rs12995180	0.90[ASN][1000 genomes]
rs13015800	0.90[ASN][1000 genomes]
rs13384504	0.90[ASN][1000 genomes]
rs13389190	0.80[ASN][1000 genomes]
rs13428423	0.80[ASN][1000 genomes]
rs1830318	0.90[ASN][1000 genomes]
rs1830320	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1881409	0.90[ASN][1000 genomes]
rs1881410	0.90[ASN][1000 genomes]
rs2663966	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34029033	0.90[ASN][1000 genomes]
rs34372836	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35462154	0.90[ASN][1000 genomes]
rs35805189	0.85[ASN][1000 genomes]
rs6430076	0.80[ASN][1000 genomes]
rs6430078	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6721988	0.90[ASN][1000 genomes]
rs6747171	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6747275	0.90[ASN][1000 genomes]
rs6749506	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7423637	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7562803	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7593336	0.83[AFR][1000 genomes]
rs7604735	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7607110	0.80[EUR][1000 genomes]
rs957292	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs957293	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875262	chr2:145830053-145888369	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv875263	chr2:145830053-145892427	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv875264	chr2:145830053-145911634	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145830400-145863200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145843800-145849200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:145844800-145849800	Weak transcription	HSMM	muscle
4	chr2:145845200-145849200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:145846600-145849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:145846600-145849600	Weak transcription	A549	lung
7	chr2:145846600-145851000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:145846800-145849200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:145846800-145853400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:145848200-145850200	Enhancers	NHDF-Ad	bronchial
11	chr2:145848400-145849200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:145848400-145849400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:145848600-145850000	Enhancers	NHLF	lung
14	chr2:145848600-145850200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:145848600-145850200	Enhancers	Osteobl	bone

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