Variant report

Variant	rs11124444
Chromosome Location	chr2:35728715-35728716
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33621149..33624012-chr2:35726795..35729641,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10495840	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11124443	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11124445	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11675868	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11689864	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11692039	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12185698	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12464263	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17327905	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17399995	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17469349	0.80[AMR][1000 genomes]
rs62143281	0.80[AMR][1000 genomes]
rs62143282	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs62143283	0.80[AMR][1000 genomes]
rs62143287	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62143288	1.00[AFR][1000 genomes]
rs62143289	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62143291	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62143294	0.87[EUR][1000 genomes]
rs62143295	0.80[AMR][1000 genomes]
rs62143296	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62143297	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62143298	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62143299	0.80[AMR][1000 genomes]
rs62143300	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62143301	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62143302	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62143303	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62143561	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62143562	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62146622	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62146628	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62146647	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62146649	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62146650	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010722	chr2:35072575-35950219	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv519522	chr2:35425529-35861883	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008651	chr2:35469467-35896486	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv999139	chr2:35483033-35860024	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv535636	chr2:35483033-35860024	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873848	chr2:35641532-35973963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949472	chr2:35709203-36447481	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv518450	chr2:35711861-35779358	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35727600-35728800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:35728000-35728800	Flanking Active TSS	HUVEC	blood vessel
3	chr2:35728000-35730000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:35728200-35730400	Enhancers	HMEC	breast
5	chr2:35728400-35729800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:35728400-35729800	Enhancers	Hela-S3	cervix
7	chr2:35728600-35729800	Enhancers	NHEK	skin

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