Variant report

Variant	rs2127133
Chromosome Location	chr8:11390452-11390453
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11389216..11391992-chr8:11394333..11396573,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1478902	1.00[YRI][hapmap]
rs2169890	1.00[AMR][1000 genomes]
rs2245030	1.00[AMR][1000 genomes]
rs2245126	1.00[YRI][hapmap]
rs2245260	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245327	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245337	1.00[AMR][1000 genomes]
rs2245454	1.00[AMR][1000 genomes]
rs2249275	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2255104	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2264304	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2264305	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2264867	1.00[AMR][1000 genomes]
rs2264868	1.00[AMR][1000 genomes]
rs2264869	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2264870	1.00[AMR][1000 genomes]
rs2448071	1.00[AMR][1000 genomes]
rs2467521	1.00[AMR][1000 genomes]
rs2467522	1.00[AMR][1000 genomes]
rs2618439	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2618440	1.00[AMR][1000 genomes]
rs2618442	1.00[YRI][hapmap]
rs2618447	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2618462	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2618468	1.00[YRI][hapmap]
rs2729936	1.00[AMR][1000 genomes]
rs2729937	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2729938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2736365	1.00[AMR][1000 genomes]
rs931083	1.00[AMR][1000 genomes]
rs931084	1.00[AMR][1000 genomes]
rs931085	1.00[AFR][1000 genomes]
rs936547	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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11386400-11390600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:11390000-11391000	Enhancers	HSMM	muscle
4	chr8:11390200-11390600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:11390200-11390600	Enhancers	HMEC	breast
6	chr8:11390200-11391000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:11390200-11391000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:11390200-11391000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:11390200-11391000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:11390200-11391000	Enhancers	NHEK	skin
11	chr8:11390200-11391600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr8:11390200-11392200	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:11390400-11390800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:11390400-11391000	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr8:11390400-11391400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:11390400-11392200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:11390400-11392400	Enhancers	Fetal Thymus	thymus

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