Variant report

Variant	rs651683
Chromosome Location	chr12:123229693-123229694
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123223583..123226017-chr12:123227504..123229824,3	K562	blood:
2	chr12:123227687..123231305-chr12:123232394..123234757,3	MCF-7	breast:
3	chr12:123228452..123230075-chr12:123232687..123234808,2	K562	blood:

Variant related genes	Relation type
ENSG00000256044	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1026395	1.00[JPT][hapmap]
rs1037593	1.00[JPT][hapmap]
rs10773599	1.00[JPT][hapmap]
rs10847742	1.00[JPT][hapmap]
rs10847749	1.00[JPT][hapmap]
rs10847751	1.00[JPT][hapmap]
rs10847775	1.00[JPT][hapmap]
rs10847910	1.00[JPT][hapmap]
rs11059729	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11060152	1.00[JPT][hapmap]
rs1260121	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1671684	1.00[JPT][hapmap]
rs1671687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1696355	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061099	1.00[JPT][hapmap]
rs2343107	1.00[JPT][hapmap]
rs2649894	0.87[ASN][1000 genomes]
rs2649895	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649900	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649903	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649914	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656812	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844369	1.00[JPT][hapmap]
rs4307760	1.00[JPT][hapmap]
rs4759353	1.00[JPT][hapmap]
rs4759354	1.00[JPT][hapmap]
rs4759384	1.00[JPT][hapmap]
rs4759438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs548349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138257	1.00[JPT][hapmap]
rs7298176	1.00[JPT][hapmap]
rs7306948	1.00[JPT][hapmap]
rs7485652	1.00[JPT][hapmap]
rs7957643	1.00[JPT][hapmap]
rs7958155	1.00[JPT][hapmap]
rs839352	0.83[AMR][1000 genomes]
rs839354	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839355	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839357	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs839362	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs897388	1.00[JPT][hapmap]
rs967281	1.00[JPT][hapmap]
rs9795629	1.00[JPT][hapmap]

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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123228000-123231600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:123228000-123233000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:123228800-123236800	Weak transcription	Right Atrium	heart
4	chr12:123229200-123231400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:123229200-123231600	Weak transcription	Primary B cells from cord blood	blood
6	chr12:123229200-123231600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:123229200-123234200	Weak transcription	HepG2	liver
8	chr12:123229200-123236000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:123229600-123231400	Weak transcription	Primary monocytes fromperipheralblood	blood

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