Variant report

Variant	rs73597252
Chromosome Location	chr16:81131345-81131346
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr16:81129931-81131545	K562	blood:	n/a	chr16:81130077-81130086 chr16:81131118-81131130 chr16:81131120-81131128 chr16:81130249-81130258
2	MAFK	chr16:81130948-81131527	K562	blood:	n/a	chr16:81131121-81131130
3	TBP	chr16:81129289-81131514	K562	blood:	n/a	n/a
4	RCOR1	chr16:81130859-81131615	K562	blood:	n/a	n/a
5	POLR2A	chr16:81129484-81131534	K562	blood:	n/a	n/a
6	EP300	chr16:81130845-81131634	K562	blood:	n/a	n/a
7	POLR2A	chr16:81129332-81131632	K562	blood:	n/a	n/a
8	TBL1XR1	chr16:81130074-81131480	K562	blood:	n/a	n/a
9	TEAD4	chr16:81130097-81131711	K562	blood:	n/a	n/a
10	MYC	chr16:81129324-81131475	K562	blood:	n/a	chr16:81129712-81129721 chr16:81131119-81131128 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81130285-81130295 chr16:81129714-81129723 chr16:81130244-81130254
11	ZNF384	chr16:81130112-81131726	K562	blood:	n/a	n/a
12	STAT5A	chr16:81131250-81131676	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81130019..81131773-chr16:81135530..81138449,2	K562	blood:
2	chr16:81131183..81132698-chr16:81137237..81140172,2	MCF-7	breast:
3	chr16:81108969..81114076-chr16:81128464..81132360,7	K562	blood:
4	chr16:81039111..81042091-chr16:81131038..81132906,2	MCF-7	breast:
5	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
6	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
7	chr16:81109389..81113385-chr16:81129533..81131576,3	K562	blood:
8	chr16:81038650..81041598-chr16:81130102..81132270,2	K562	blood:
9	chr16:81049357..81051527-chr16:81129457..81131471,2	K562	blood:
10	chr16:81049357..81051775-chr16:81129457..81132672,3	K562	blood:

Variant related genes	Relation type
GCSH	TF binding region
ENSG00000166455	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000260213	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1035541	0.83[EUR][1000 genomes]
rs1048194	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050364	0.88[EUR][1000 genomes]
rs10514512	0.88[EUR][1000 genomes]
rs10514513	0.88[EUR][1000 genomes]
rs10514514	0.88[EUR][1000 genomes]
rs10514515	0.88[EUR][1000 genomes]
rs11866124	0.88[EUR][1000 genomes]
rs12443549	0.89[EUR][1000 genomes]
rs12444137	0.89[EUR][1000 genomes]
rs12444747	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444974	0.84[EUR][1000 genomes]
rs12445303	0.88[EUR][1000 genomes]
rs12448806	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12456	0.84[EUR][1000 genomes]
rs12598621	0.88[EUR][1000 genomes]
rs1410	0.84[EUR][1000 genomes]
rs1412	0.86[EUR][1000 genomes]
rs1414	0.86[EUR][1000 genomes]
rs1563072	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563075	0.90[EUR][1000 genomes]
rs1563077	0.88[EUR][1000 genomes]
rs16954513	1.00[ASN][1000 genomes]
rs16954572	0.88[EUR][1000 genomes]
rs16954582	0.88[EUR][1000 genomes]
rs1814543	0.82[EUR][1000 genomes]
rs2316730	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2316731	0.84[EUR][1000 genomes]
rs2317085	0.87[EUR][1000 genomes]
rs2317086	0.86[EUR][1000 genomes]
rs2317087	0.95[EUR][1000 genomes]
rs28391685	0.88[EUR][1000 genomes]
rs28613188	0.88[EUR][1000 genomes]
rs28672349	0.88[EUR][1000 genomes]
rs4306521	0.88[EUR][1000 genomes]
rs4324141	0.88[EUR][1000 genomes]
rs4324142	0.88[EUR][1000 genomes]
rs4324143	0.88[EUR][1000 genomes]
rs4454990	0.87[EUR][1000 genomes]
rs4889227	0.88[EUR][1000 genomes]
rs4889231	0.88[EUR][1000 genomes]
rs4889233	0.88[EUR][1000 genomes]
rs5023849	0.88[EUR][1000 genomes]
rs5023850	0.84[EUR][1000 genomes]
rs5023852	0.88[EUR][1000 genomes]
rs55939311	0.89[EUR][1000 genomes]
rs56032321	0.88[EUR][1000 genomes]
rs56119129	0.88[EUR][1000 genomes]
rs56166222	0.89[EUR][1000 genomes]
rs56198248	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56286107	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56375210	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56395947	0.88[EUR][1000 genomes]
rs57606521	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59177227	0.88[EUR][1000 genomes]
rs59685942	0.88[EUR][1000 genomes]
rs60303302	0.82[EUR][1000 genomes]
rs61082942	0.88[EUR][1000 genomes]
rs6420419	0.88[EUR][1000 genomes]
rs6420421	0.88[EUR][1000 genomes]
rs6564819	0.82[EUR][1000 genomes]
rs7188508	0.88[EUR][1000 genomes]
rs7204040	0.88[EUR][1000 genomes]
rs8043855	0.82[EUR][1000 genomes]
rs8047495	0.80[EUR][1000 genomes]
rs804897	0.84[EUR][1000 genomes]
rs8052490	0.88[EUR][1000 genomes]
rs8056972	0.88[EUR][1000 genomes]
rs8059692	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177851	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177876	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177939	0.84[EUR][1000 genomes]
rs8177940	0.88[EUR][1000 genomes]
rs8177942	0.89[EUR][1000 genomes]
rs8177943	0.88[EUR][1000 genomes]
rs8177945	0.86[EUR][1000 genomes]
rs8177948	0.88[EUR][1000 genomes]
rs8177950	0.88[EUR][1000 genomes]
rs8177959	0.86[EUR][1000 genomes]
rs874437	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9923732	0.88[EUR][1000 genomes]
rs9925940	0.88[EUR][1000 genomes]
rs9925943	0.88[EUR][1000 genomes]
rs9926174	0.88[EUR][1000 genomes]
rs9929586	0.88[EUR][1000 genomes]
rs9933184	0.88[EUR][1000 genomes]
rs9938965	0.88[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	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1067144	chr16:81129298-81181641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73597252	ATMIN	cis	Muscle Skeletal	GTEx
rs73597252	GCSH	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
3	chr16:81130200-81132200	Flanking Active TSS	K562	blood
4	chr16:81130600-81132200	Enhancers	Placenta	Placenta
5	chr16:81131000-81131600	Enhancers	Hela-S3	cervix
6	chr16:81131000-81140400	Weak transcription	Adipose Nuclei	Adipose
7	chr16:81131200-81136400	Weak transcription	HepG2	liver

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