Variant report

Variant	rs57378177
Chromosome Location	chr7:64310953-64310954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10224118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232081	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235528	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238725	1.00[AMR][1000 genomes]
rs10239858	1.00[AMR][1000 genomes]
rs10240072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242362	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252489	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253182	1.00[AMR][1000 genomes]
rs10257838	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267334	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268661	1.00[AMR][1000 genomes]
rs10268911	0.89[AMR][1000 genomes]
rs10270201	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10273584	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279937	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10280811	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11971909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334009	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12386739	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446684	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28621515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687501	1.00[AMR][1000 genomes]
rs28691843	1.00[AMR][1000 genomes]
rs4718179	0.89[AMR][1000 genomes]
rs4718184	0.89[AMR][1000 genomes]
rs57661360	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58355223	1.00[AMR][1000 genomes]
rs59310381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60019747	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61365184	1.00[AMR][1000 genomes]
rs61496262	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699515	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699599	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73699601	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699910	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73703203	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73703204	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7803418	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers 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	37 gene(s)	inside rSNPs	diseases
8	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1797468	chr7:64296309-64356050	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription 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 target site	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64310400-64311200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:64310400-64312800	Weak transcription	Brain Anterior Caudate	brain
3	chr7:64310400-64313800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:64310400-64320600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:64310600-64311200	Enhancers	K562	blood
6	chr7:64310600-64313200	Weak transcription	Brain Hippocampus Middle	brain

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