Variant report

Variant	rs72688028
Chromosome Location	chr14:22170226-22170227
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	POLR2A	chr14:22170181-22170450	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr14:22170097-22170406	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000256350	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10143830	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12431441	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12432330	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12432570	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12433499	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12436495	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436701	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109476	1.00[ASN][1000 genomes]
rs59708545	1.00[ASN][1000 genomes]
rs60301742	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7159936	1.00[ASN][1000 genomes]
rs72686072	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72686076	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72686078	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72686082	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72686084	0.82[AMR][1000 genomes]
rs72686085	0.82[AMR][1000 genomes]
rs72686086	0.82[AMR][1000 genomes]
rs72686097	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72686098	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688011	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688032	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688034	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688037	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688040	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688046	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688047	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688051	1.00[ASN][1000 genomes]
rs72688054	1.00[ASN][1000 genomes]
rs72688067	1.00[AFR][1000 genomes]
rs72688073	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv510629	chr14:22134425-22215842	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22169000-22171000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:22170000-22170400	Weak transcription	Rectal Mucosa Donor 31	rectum

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