Variant report

Variant	rs56297403
Chromosome Location	chr1:92706547-92706548
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	chr1:92706202..92709030-chr1:92713250..92715808,3	K562	blood:

Variant related genes	Relation type
ENSG00000174842	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10399671	0.87[EUR][1000 genomes]
rs12075168	0.87[EUR][1000 genomes]
rs12075243	0.87[EUR][1000 genomes]
rs12098095	0.87[EUR][1000 genomes]
rs17131632	0.87[EUR][1000 genomes]
rs17131636	0.87[EUR][1000 genomes]
rs41296171	1.00[EUR][1000 genomes]
rs41313389	1.00[EUR][1000 genomes]
rs55993081	0.87[EUR][1000 genomes]
rs57177520	1.00[EUR][1000 genomes]
rs57217458	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142139	1.00[EUR][1000 genomes]
rs59278612	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60265386	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60550001	1.00[EUR][1000 genomes]
rs60755573	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60933677	1.00[EUR][1000 genomes]
rs61141829	1.00[EUR][1000 genomes]
rs61185080	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61410146	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6660858	1.00[EUR][1000 genomes]
rs6661028	1.00[EUR][1000 genomes]
rs6672838	0.87[EUR][1000 genomes]
rs6679259	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6681213	1.00[EUR][1000 genomes]
rs6683456	0.87[EUR][1000 genomes]
rs6695475	1.00[EUR][1000 genomes]
rs6702975	1.00[EUR][1000 genomes]
rs6704484	1.00[EUR][1000 genomes]
rs72958703	0.91[AFR][1000 genomes]
rs72958740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958746	1.00[EUR][1000 genomes]
rs72958774	1.00[EUR][1000 genomes]
rs72958781	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958796	1.00[EUR][1000 genomes]
rs72960815	1.00[EUR][1000 genomes]
rs72960831	1.00[EUR][1000 genomes]
rs72960835	1.00[EUR][1000 genomes]
rs72960847	1.00[EUR][1000 genomes]
rs72960860	1.00[EUR][1000 genomes]
rs72960870	1.00[EUR][1000 genomes]
rs72960872	0.87[EUR][1000 genomes]
rs72962640	1.00[EUR][1000 genomes]
rs72962659	0.87[EUR][1000 genomes]
rs74101123	1.00[EUR][1000 genomes]
rs74101131	1.00[EUR][1000 genomes]
rs74101133	1.00[EUR][1000 genomes]
rs74101146	1.00[EUR][1000 genomes]
rs74101152	1.00[EUR][1000 genomes]
rs74101157	1.00[EUR][1000 genomes]
rs74102832	1.00[EUR][1000 genomes]
rs74102844	1.00[EUR][1000 genomes]
rs74102853	1.00[EUR][1000 genomes]
rs74102861	1.00[EUR][1000 genomes]
rs7513631	1.00[EUR][1000 genomes]
rs7519603	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520555	1.00[EUR][1000 genomes]
rs7520675	0.87[EUR][1000 genomes]
rs7522789	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7525174	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527960	0.87[EUR][1000 genomes]
rs7529971	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534750	1.00[EUR][1000 genomes]
rs7542362	1.00[EUR][1000 genomes]
rs7542736	0.87[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	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92705600-92726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:92705800-92711400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:92705800-92729200	Weak transcription	Brain Inferior Temporal Lobe	brain

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