Variant report

Variant	rs800713
Chromosome Location	chr7:15971919-15971920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10224295	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10253795	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10278969	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12699757	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1298311	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17351518	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2215169	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs38209	0.85[AMR][1000 genomes]
rs38220	0.82[ASN][1000 genomes]
rs38222	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs38223	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38224	0.80[AMR][1000 genomes]
rs38226	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs38231	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs38233	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs38234	0.87[AMR][1000 genomes]
rs38236	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs38238	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs38239	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs38251	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38252	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38258	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461209	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6943089	0.89[ASN][1000 genomes]
rs6949049	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6959942	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6962520	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6965426	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6970657	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs768667	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs768668	0.89[ASN][1000 genomes]
rs7782148	0.89[ASN][1000 genomes]
rs800715	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523199	chr7:15582208-16042596	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv520205	chr7:15964238-15975614	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15970400-15973600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:15970800-15972200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:15971200-15972600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:15971400-15973200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:15971800-15972000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:15971800-15972400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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