Variant report

Variant	rs6997572
Chromosome Location	chr8:86351650-86351651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10453169	1.00[AMR][1000 genomes]
rs16913908	1.00[AMR][1000 genomes]
rs16913914	1.00[AMR][1000 genomes]
rs2228063	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58830935	1.00[AMR][1000 genomes]
rs61454267	1.00[AMR][1000 genomes]
rs6605615	1.00[AMR][1000 genomes]
rs6605616	0.88[YRI][hapmap]
rs6605619	1.00[AMR][1000 genomes]
rs6981581	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7002912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003233	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007330	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs7016508	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7815610	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs7820842	1.00[AMR][1000 genomes]
rs7827403	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86349600-86351800	Active TSS	Psoas Muscle	Psoas
2	chr8:86351200-86352800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr8:86351200-86357000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
4	chr8:86351200-86364800	Weak transcription	Liver	Liver
5	chr8:86351200-86367200	Weak transcription	Left Ventricle	heart
6	chr8:86351200-86374000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:86351400-86351800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:86351400-86352200	Weak transcription	Adipose Nuclei	Adipose
9	chr8:86351400-86352800	Active TSS	Fetal Muscle Trunk	muscle
10	chr8:86351400-86361800	Weak transcription	Ovary	ovary
11	chr8:86351600-86352200	Enhancers	Fetal Lung	lung
12	chr8:86351600-86354000	Active TSS	Fetal Muscle Leg	muscle
13	chr8:86351600-86358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:86351600-86365200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:86351600-86368200	Weak transcription	Brain Cingulate Gyrus	brain

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

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