Variant report

Variant	rs72921478
Chromosome Location	chr4:127579682-127579683
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	chr4:127538144..127539665-chr4:127577357..127580161,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1397671	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16896	0.84[ASN][1000 genomes]
rs17011330	0.81[EUR][1000 genomes]
rs17011332	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17011337	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17011412	0.88[ASN][1000 genomes]
rs17011435	0.88[ASN][1000 genomes]
rs17261025	0.88[ASN][1000 genomes]
rs313056	0.91[ASN][1000 genomes]
rs372903	0.93[ASN][1000 genomes]
rs56348808	0.93[ASN][1000 genomes]
rs57594926	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59251644	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62322732	0.93[ASN][1000 genomes]
rs62322733	0.93[ASN][1000 genomes]
rs62324175	0.84[ASN][1000 genomes]
rs62324176	0.84[ASN][1000 genomes]
rs6816353	0.88[ASN][1000 genomes]
rs6845383	0.84[ASN][1000 genomes]
rs72921457	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72921459	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72921462	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72921473	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72921474	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72921479	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72921483	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127574600-127582400	Weak transcription	K562	blood
2	chr4:127578400-127581000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:127579400-127580000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:127579400-127580200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:127579600-127580200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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