Variant report

Variant	rs6945489
Chromosome Location	chr7:79027222-79027223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10232342	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs10238914	0.98[AFR][1000 genomes]
rs10239365	0.93[AFR][1000 genomes]
rs10260651	0.98[AFR][1000 genomes]
rs10261316	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs10263750	0.93[AFR][1000 genomes]
rs10264527	0.80[YRI][hapmap]
rs10267762	0.98[AFR][1000 genomes]
rs10268433	0.93[AFR][1000 genomes]
rs10268915	0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs10273381	0.94[YRI][hapmap];0.91[AFR][1000 genomes]
rs10276081	0.94[YRI][hapmap];0.91[AFR][1000 genomes]
rs28638796	0.93[AFR][1000 genomes]
rs6957328	0.94[YRI][hapmap];0.98[AFR][1000 genomes]
rs73704181	0.93[AFR][1000 genomes]
rs73704182	0.91[AFR][1000 genomes]
rs73706424	0.98[AFR][1000 genomes]
rs9886304	0.93[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv464600	chr7:78981719-79030922	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv607663	chr7:78981719-79030922	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv888514	chr7:78987060-79061837	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv607664	chr7:78998409-79057761	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79017600-79030400	Weak transcription	Brain Substantia Nigra	brain
2	chr7:79023800-79027400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:79026800-79028000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr7:79026800-79028000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:79027000-79027400	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:79027000-79027600	Enhancers	Brain Angular Gyrus	brain
7	chr7:79027000-79028000	Enhancers	Brain Anterior Caudate	brain
8	chr7:79027000-79028400	Enhancers	HUVEC	blood vessel
9	chr7:79027200-79027800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:79027200-79028200	Enhancers	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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