Variant report

Variant	rs1638447
Chromosome Location	chr17:44994462-44994463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44994313..44996051-chr17:44999920..45001447,2	K562	blood:

Variant related genes	Relation type
ENSG00000262633	Chromatin interaction
ENSG00000261886	Chromatin interaction
ENSG00000108433	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11079743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1625900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1634270	1.00[EUR][1000 genomes]
rs1638449	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1662595	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1662598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941147	1.00[EUR][1000 genomes]
rs183199	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs197921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs197933	1.00[EUR][1000 genomes]
rs197934	1.00[EUR][1000 genomes]
rs197940	1.00[EUR][1000 genomes]
rs2018281	1.00[EUR][1000 genomes]
rs2108922	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28377288	1.00[EUR][1000 genomes]
rs28740955	1.00[EUR][1000 genomes]
rs3851783	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4083002	1.00[EUR][1000 genomes]
rs4968289	1.00[EUR][1000 genomes]
rs60458827	1.00[EUR][1000 genomes]
rs7212013	1.00[EUR][1000 genomes]
rs7221149	1.00[EUR][1000 genomes]
rs73316337	1.00[EUR][1000 genomes]
rs73987013	1.00[EUR][1000 genomes]
rs73987030	1.00[EUR][1000 genomes]
rs8064340	1.00[EUR][1000 genomes]
rs8064568	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8071980	1.00[EUR][1000 genomes]
rs8078556	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893406	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9893495	1.00[EUR][1000 genomes]
rs9900809	1.00[EUR][1000 genomes]
rs9910543	1.00[EUR][1000 genomes]
rs9915693	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44988200-44999800	Weak transcription	Right Ventricle	heart
2	chr17:44988400-45000000	Weak transcription	Pancreas	Pancrea
3	chr17:44991200-44999800	Weak transcription	Brain Hippocampus Middle	brain
4	chr17:44991600-44999600	Weak transcription	Brain Anterior Caudate	brain
5	chr17:44992600-44994600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:44994200-44999800	Weak transcription	NHLF	lung
7	chr17:44994400-44995000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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