Variant report

Variant	rs7809347
Chromosome Location	chr7:84707597-84707598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10253498	0.93[EUR][1000 genomes]
rs13222785	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16887818	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs16887821	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs2240394	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs2286191	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs2286192	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs4461846	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs60210253	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6957484	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs6966472	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6974210	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7800255	0.81[AMR][1000 genomes];0.92[EUR][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	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1032610	chr7:84683282-84725413	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1034620	chr7:84701267-84791576	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv519125	chr7:84704447-84795710	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84696000-84717600	Weak transcription	Fetal Stomach	stomach
2	chr7:84701200-84715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:84701400-84709800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:84707200-84707600	Weak transcription	Fetal Kidney	kidney
5	chr7:84707200-84707800	Enhancers	Fetal Lung	lung
6	chr7:84707400-84707600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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