Variant report

Variant	rs6471952
Chromosome Location	chr8:62378682-62378683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10087306	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10088453	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10090149	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs10097248	1.00[JPT][hapmap]
rs10102451	1.00[MEX][hapmap]
rs10112262	1.00[CEU][hapmap]
rs10216566	1.00[MEX][hapmap]
rs11984936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987270	1.00[MEX][hapmap]
rs11991141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997276	1.00[ASN][1000 genomes]
rs13438822	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1546110	0.85[JPT][hapmap]
rs16918879	1.00[JPT][hapmap]
rs16927192	1.00[MEX][hapmap]
rs16927318	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16927427	1.00[JPT][hapmap]
rs16927431	0.85[JPT][hapmap]
rs16927456	0.85[JPT][hapmap]
rs1968989	0.85[JPT][hapmap]
rs2083437	1.00[MEX][hapmap]
rs28660637	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61636477	0.88[ASN][1000 genomes]
rs6992756	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6996147	1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6996200	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7003083	1.00[MEX][hapmap]
rs7005403	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745206	1.00[MEX][hapmap]
rs7816580	0.87[ASN][1000 genomes]
rs7816683	1.00[JPT][hapmap]
rs7826834	1.00[CEU][hapmap]
rs7831255	0.84[ASN][1000 genomes]
rs7832524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7840780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7841058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841542	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842754	1.00[CEU][hapmap]
rs9693981	0.85[JPT][hapmap]

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	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62364400-62380800	Weak transcription	Brain Germinal Matrix	brain
2	chr8:62366800-62383200	Weak transcription	Brain Anterior Caudate	brain
3	chr8:62367400-62381600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:62370600-62386600	Weak transcription	Fetal Brain Male	brain
5	chr8:62374200-62380000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:62375600-62383000	Weak transcription	Fetal Brain Female	brain
7	chr8:62378000-62379800	Weak transcription	Adipose Nuclei	Adipose
8	chr8:62378600-62379000	Enhancers	Duodenum Smooth Muscle	Duodenum

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