Variant report

Variant	rs2708461
Chromosome Location	chr12:40538358-40538359
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	chr12:40536767..40538493-chr12:40545018..40546756,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1388585	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2244534	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs2244780	0.85[YRI][hapmap]
rs2253021	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs2253171	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2253867	1.00[AFR][1000 genomes]
rs2638223	1.00[AFR][1000 genomes]
rs2638235	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs2638236	0.86[AFR][1000 genomes]
rs2638237	0.86[AFR][1000 genomes]
rs2638240	0.86[AFR][1000 genomes]
rs2638241	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs2638243	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs2638261	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2638265	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708403	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708405	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708406	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708410	0.86[AFR][1000 genomes]
rs2708415	0.86[AFR][1000 genomes]
rs2708416	0.85[YRI][hapmap]
rs2708460	1.00[AFR][1000 genomes]
rs2708462	0.86[AFR][1000 genomes]
rs2708471	0.86[AFR][1000 genomes]
rs2708475	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708483	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708484	1.00[YRI][hapmap]

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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv519063	chr12:40536061-40538858	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40532800-40543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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