Variant report

Variant	rs7593141
Chromosome Location	chr2:12104314-12104315
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1595807	0.83[YRI][hapmap]
rs16858077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58143595	0.93[EUR][1000 genomes]
rs60510807	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6708295	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708806	0.80[EUR][1000 genomes]
rs6709058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6712004	0.87[YRI][hapmap]
rs6715248	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6715988	0.93[EUR][1000 genomes]
rs6734988	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760198	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12101800-12104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:12102000-12105800	Weak transcription	GM12878-XiMat	blood
3	chr2:12102200-12107000	Weak transcription	Fetal Lung	lung
4	chr2:12102600-12105000	Enhancers	Colon Smooth Muscle	Colon
5	chr2:12103200-12108000	Weak transcription	Left Ventricle	heart
6	chr2:12103200-12108000	Weak transcription	Right Atrium	heart
7	chr2:12103800-12104400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:12103800-12104400	Enhancers	HMEC	breast
9	chr2:12104000-12104400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:12104000-12104400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:12104000-12104400	Enhancers	NHEK	skin
12	chr2:12104000-12106200	Weak transcription	K562	blood
13	chr2:12104200-12104400	Enhancers	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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