Variant report

Variant	rs74088999
Chromosome Location	chr1:76176821-76176822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76175057..76177134-chr1:76227565..76229242,2	K562	blood:
2	chr1:76174957..76177088-chr1:76188686..76191585,2	K562	blood:

Variant related genes	Relation type
ENSG00000117054	Chromatin interaction
ENSG00000178193	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10465725	0.91[EUR][1000 genomes]
rs1144329	0.83[EUR][1000 genomes]
rs1146603	0.83[EUR][1000 genomes]
rs1146605	0.83[EUR][1000 genomes]
rs1146606	0.83[EUR][1000 genomes]
rs1146608	0.83[EUR][1000 genomes]
rs1146611	0.83[EUR][1000 genomes]
rs1146612	0.83[EUR][1000 genomes]
rs1146614	0.83[EUR][1000 genomes]
rs1146615	0.83[EUR][1000 genomes]
rs1146618	0.83[EUR][1000 genomes]
rs1146619	0.83[EUR][1000 genomes]
rs1146620	0.83[EUR][1000 genomes]
rs1146622	0.83[EUR][1000 genomes]
rs1146624	0.83[EUR][1000 genomes]
rs1146628	0.83[EUR][1000 genomes]
rs1146629	0.83[EUR][1000 genomes]
rs1146641	0.83[EUR][1000 genomes]
rs12074938	0.91[EUR][1000 genomes]
rs12079065	0.91[EUR][1000 genomes]
rs12079211	0.91[EUR][1000 genomes]
rs12081631	0.91[EUR][1000 genomes]
rs12093817	0.83[EUR][1000 genomes]
rs12094698	0.83[EUR][1000 genomes]
rs13376397	0.91[EUR][1000 genomes]
rs17097567	0.91[EUR][1000 genomes]
rs55781251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55977041	0.91[EUR][1000 genomes]
rs56036152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56069207	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56322662	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56364153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56401077	0.96[AFR][1000 genomes]
rs57443433	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5745309	0.91[EUR][1000 genomes]
rs5745418	0.91[EUR][1000 genomes]
rs57798497	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58125729	0.91[EUR][1000 genomes]
rs59723961	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59932454	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60219146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60630670	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60871503	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61124994	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61612438	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74088936	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs74088996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74088997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090716	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090717	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090720	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090724	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090726	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090729	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090734	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090737	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090744	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs815310	0.91[EUR][1000 genomes]
rs815311	0.91[EUR][1000 genomes]
rs9970840	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr1:76176400-76177000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:76176400-76178200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76176600-76177000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:76176600-76177800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:76176800-76177000	Enhancers	Left Ventricle	heart
6	chr1:76176800-76177200	Enhancers	Skeletal Muscle Female	skeletal muscle

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