Variant report

Variant	rs221473
Chromosome Location	chr14:80104616-80104617
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs170253	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs17109638	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17109649	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs172711	0.96[ASN][1000 genomes]
rs178351	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1816146	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs182610	0.96[ASN][1000 genomes]
rs191991	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs221445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs221446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs221451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs221452	0.97[ASN][1000 genomes]
rs221453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs221455	0.91[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs221457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs221465	0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs221467	0.92[ASN][1000 genomes]
rs221468	0.91[ASN][1000 genomes]
rs221469	0.86[ASN][1000 genomes]
rs221471	1.00[ASN][1000 genomes]
rs221474	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs221475	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs221477	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs221480	0.97[ASN][1000 genomes]
rs221481	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221482	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221483	0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs221485	0.90[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs221486	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs221487	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs221488	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs221489	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221491	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221492	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs221493	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221494	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221497	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs221498	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221500	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs221503	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs221505	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs221509	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs221511	0.94[ASN][1000 genomes]
rs221512	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs221513	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs221516	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2543584	0.89[ASN][1000 genomes]
rs55933035	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1834615	chr14:80098883-80114863	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1838840	chr14:80098883-80114863	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv511536	chr14:80098883-80115560	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3359313	chr14:80101248-80115879	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
8	nsv1370	chr14:80103510-80121890	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv565248	chr14:80104576-80110909	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
10	nsv565249	chr14:80104576-80114558	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	nsv565250	chr14:80104576-80114863	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80104200-80105400	Enhancers	Pancreas	Pancrea
2	chr14:80104400-80105000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr14:80104400-80105600	Enhancers	Fetal Brain Male	brain
4	chr14:80104600-80106000	Enhancers	Pancreatic Islets	Pancreatic Islet

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