Variant report

Variant	rs2296144
Chromosome Location	chr11:34501596-34501597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10836199	0.82[EUR][1000 genomes]
rs10836205	0.83[EUR][1000 genomes]
rs11032659	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12364122	0.90[EUR][1000 genomes]
rs1535717	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1535718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057513	0.99[ASN][1000 genomes]
rs2073057	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs208667	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs208678	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs208679	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2746151	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2746159	0.87[EUR][1000 genomes]
rs2746162	0.90[EUR][1000 genomes]
rs373443	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs409598	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4556514	0.83[EUR][1000 genomes]
rs550965	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs551929	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60471588	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34483400-34501600	Weak transcription	HMEC	breast
2	chr11:34491000-34501800	Weak transcription	Psoas Muscle	Psoas
3	chr11:34494000-34501800	Weak transcription	HSMM	muscle
4	chr11:34495200-34501800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34496800-34501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:34497000-34501800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:34497200-34501800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:34498600-34502200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:34500400-34502400	Enhancers	Liver	Liver
10	chr11:34500800-34501800	Weak transcription	HepG2	liver
11	chr11:34501400-34501600	Enhancers	Fetal Kidney	kidney
12	chr11:34501400-34502400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:34501400-34502400	Enhancers	HSMMtube	muscle
14	chr11:34501400-34503200	Enhancers	Hela-S3	cervix

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