Variant report

Variant	rs4759262
Chromosome Location	chr12:57272094-57272095
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57264633..57266988-chr12:57270306..57272407,2	K562	blood:

Variant related genes	Relation type
ENSG00000258679	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10876942	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10876955	0.80[EUR][1000 genomes]
rs10876956	0.80[EUR][1000 genomes]
rs11172003	0.87[ASN][1000 genomes]
rs11172021	0.87[ASN][1000 genomes]
rs11172022	0.87[ASN][1000 genomes]
rs11172026	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11172038	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172046	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172064	0.80[EUR][1000 genomes]
rs11172065	0.80[EUR][1000 genomes]
rs11172066	0.80[EUR][1000 genomes]
rs11613486	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119149	0.83[EUR][1000 genomes]
rs4237807	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415812	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4435043	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477472	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759260	0.90[ASN][1000 genomes]
rs4759261	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4759266	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937853	0.90[ASN][1000 genomes]
rs7295197	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307358	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311658	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954692	0.90[ASN][1000 genomes]
rs7964087	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57267400-57274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:57268400-57274200	Weak transcription	Fetal Kidney	kidney
3	chr12:57270000-57272200	Enhancers	Liver	Liver
4	chr12:57270200-57272400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:57270200-57272400	Enhancers	HepG2	liver
6	chr12:57271200-57272400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:57271400-57272200	Enhancers	HSMM	muscle
8	chr12:57271600-57272200	Flanking Active TSS	K562	blood
9	chr12:57271600-57273600	Enhancers	Placenta	Placenta
10	chr12:57271800-57272200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:57272000-57272400	Enhancers	A549	lung
12	chr12:57272000-57274000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:57272000-57274000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:57272000-57274000	Weak transcription	HSMMtube	muscle

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