Variant report

Variant	rs1608671
Chromosome Location	chr7:80195025-80195026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10233710	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10246970	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1093829	0.82[EUR][1000 genomes]
rs1093830	0.81[EUR][1000 genomes]
rs1093831	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1093833	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1093834	0.82[EUR][1000 genomes]
rs1093835	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1194195	0.87[EUR][1000 genomes]
rs1194196	0.87[EUR][1000 genomes]
rs1194197	0.87[EUR][1000 genomes]
rs1320408	0.82[EUR][1000 genomes]
rs1464793	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1761645	0.82[EUR][1000 genomes]
rs1761646	0.82[EUR][1000 genomes]
rs1761673	0.80[EUR][1000 genomes]
rs2366744	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2781841	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6467251	0.82[EUR][1000 genomes]
rs6467258	0.80[EUR][1000 genomes]
rs701269	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71531176	0.82[EUR][1000 genomes]
rs7793698	0.82[EUR][1000 genomes]
rs7794010	0.82[EUR][1000 genomes]
rs7810280	0.82[EUR][1000 genomes]
rs819443	0.82[EUR][1000 genomes]
rs819444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs819445	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs819455	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs819456	0.87[EUR][1000 genomes]
rs819457	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs819460	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs940542	0.82[EUR][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	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv888525	chr7:80148668-80232471	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers 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	2 gene(s)	inside rSNPs	diseases
10	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1017381	chr7:80187725-80224314	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80193200-80195200	Weak transcription	Right Ventricle	heart
2	chr7:80193200-80196000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:80193800-80196400	Weak transcription	Fetal Intestine Small	intestine
4	chr7:80193800-80204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:80194200-80195400	Weak transcription	Fetal Intestine Large	intestine
6	chr7:80194800-80195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:80195000-80195600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:80195000-80195600	Enhancers	Lung	lung
9	chr7:80195000-80195800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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