Variant report

Variant	rs2594687
Chromosome Location	chr1:104950562-104950563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157651	0.93[ASN][1000 genomes]
rs10881154	0.86[ASN][1000 genomes]
rs10881155	0.86[ASN][1000 genomes]
rs11488065	0.83[ASN][1000 genomes]
rs11488076	0.86[ASN][1000 genomes]
rs12065559	0.86[ASN][1000 genomes]
rs12097185	0.83[ASN][1000 genomes]
rs12161519	0.84[ASN][1000 genomes]
rs2594689	0.98[ASN][1000 genomes]
rs2646717	0.98[ASN][1000 genomes]
rs2646718	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646721	0.98[ASN][1000 genomes]
rs315149	0.86[ASN][1000 genomes]
rs59574881	0.86[ASN][1000 genomes]
rs6661785	0.83[ASN][1000 genomes]
rs74104390	0.83[ASN][1000 genomes]
rs74106739	0.90[ASN][1000 genomes]
rs7413907	0.86[ASN][1000 genomes]
rs7542377	0.86[ASN][1000 genomes]
rs9662977	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872072	chr1:104470622-105076810	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010903	chr1:104483363-105468941	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2762170	chr1:104817700-105411596	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv872076	chr1:104871518-104952299	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv872077	chr1:104890559-104952299	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv547213	chr1:104890559-104954365	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv872078	chr1:104890559-104997471	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv872079	chr1:104893852-104980964	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
9	nsv872080	chr1:104893852-104985647	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	nsv462851	chr1:104897848-104987416	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
11	nsv547215	chr1:104897848-104987416	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
12	nsv547216	chr1:104911326-104980964	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
13	nsv528566	chr1:104944850-105027397	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1009719	chr1:104945065-105028509	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104949000-104950800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:104950200-104950600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:104950400-104950600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:104950400-104952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:104950400-104953200	Weak transcription	Fetal Heart	heart

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