Variant report

Variant	rs17458533
Chromosome Location	chr7:69312507-69312508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10487941	0.93[AMR][1000 genomes]
rs12164074	1.00[AMR][1000 genomes]
rs17140848	0.94[ASN][1000 genomes]
rs17140871	0.94[ASN][1000 genomes]
rs17141015	0.95[ASN][1000 genomes]
rs17353017	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17361399	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361448	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362481	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17362817	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17363468	0.84[EUR][1000 genomes]
rs17364237	0.93[AMR][1000 genomes]
rs17457848	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17459271	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17459369	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17459722	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17460898	0.80[ASN][1000 genomes]
rs2191824	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4140975	0.87[ASN][1000 genomes]
rs58305621	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58974518	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59797025	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6460529	0.84[ASN][1000 genomes]
rs6460531	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6970097	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6975213	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7781686	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7790458	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv532781	chr7:69297250-69330796	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69305200-69312800	Weak transcription	Dnd41	blood
2	chr7:69306400-69312800	Weak transcription	Fetal Lung	lung
3	chr7:69306600-69312600	Weak transcription	Ovary	ovary
4	chr7:69311000-69312600	Weak transcription	Brain Germinal Matrix	brain
5	chr7:69311000-69313000	Weak transcription	Fetal Brain Male	brain
6	chr7:69311000-69313200	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:69311000-69320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
9	chr7:69311600-69315400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:69311600-69323600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:69312200-69313000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:69312200-69313600	Enhancers	Colon Smooth Muscle	Colon
13	chr7:69312400-69313400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:69312400-69313800	Enhancers	Fetal Brain Female	brain

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