Variant report

Variant	rs12107249
Chromosome Location	chr3:139056959-139056960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138552766..138554683-chr3:139056672..139058862,2	K562	blood:
2	chr3:139056776..139060139-chr3:139061130..139064299,6	K562	blood:
3	chr3:139055985..139057800-chr3:139059235..139061207,2	K562	blood:
4	chr3:139046461..139048787-chr3:139056957..139058941,2	K562	blood:

Variant related genes	Relation type
ENSG00000051382	Chromatin interaction
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11914638	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11924964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928018	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1599926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182409	1.00[JPT][hapmap]
rs2233817	0.85[CEU][hapmap]
rs2278577	0.87[CEU][hapmap]
rs2307030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34994114	0.94[ASN][1000 genomes]
rs3772874	0.87[CEU][hapmap]
rs56176652	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57459537	0.81[ASN][1000 genomes]
rs57490542	0.94[ASN][1000 genomes]
rs60077646	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61613815	0.94[ASN][1000 genomes]
rs6439863	0.87[CEU][hapmap]
rs6767503	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770374	0.91[EUR][1000 genomes]
rs6773840	1.00[ASN][1000 genomes]
rs6774691	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6781318	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788896	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6797945	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986758	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7373302	0.87[CEU][hapmap]
rs7612306	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7622961	1.00[JPT][hapmap]
rs7649535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap]
rs9756378	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879736	1.00[CEU][hapmap]
rs9879748	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005158	chr3:139001736-139073011	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv4034	chr3:139034976-139080133	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139048200-139062400	Weak transcription	Right Atrium	heart
2	chr3:139056000-139057800	Enhancers	K562	blood
3	chr3:139056800-139058600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:139056800-139060400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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