Variant report

Variant	rs7962370
Chromosome Location	chr12:40765929-40765930
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	12:40703633-40711447..12:40765226-40767074	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10784528	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1427259	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1427261	0.88[CEU][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs1465527	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549562	0.83[EUR][1000 genomes]
rs17484286	0.86[CHB][hapmap]
rs1816207	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1822606	0.83[EUR][1000 genomes]
rs1834745	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1834746	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2081702	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3861083	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4099579	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4465428	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes]
rs4473003	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs4767971	0.89[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4767972	0.80[CEU][hapmap]
rs4768238	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6581723	0.82[TSI][hapmap]
rs7131694	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7134572	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs715402	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7307310	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[GIH][hapmap];0.80[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955042	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963086	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7966143	0.83[EUR][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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv2761734	chr12:40764769-40776064	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40726200-40766600	Weak transcription	A549	lung
3	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:40754800-40767600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:40764600-40769800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:40765000-40766600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:40765000-40766800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:40765200-40766800	Weak transcription	Primary monocytes fromperipheralblood	blood

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