Variant report

Variant	rs72969478
Chromosome Location	chr4:150872625-150872626
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	chr4:150863926..150866873-chr4:150869991..150872787,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs4464548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4482743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4493520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59305347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951635	0.96[AFR][1000 genomes]
rs72951643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951647	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955787	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969468	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1016169	chr4:150670127-150903827	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537299	chr4:150670127-150903827	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv880255	chr4:150777012-150874830	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv516344	chr4:150862026-150874830	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv830111	chr4:150867357-151035556	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150871800-150873400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:150872000-150873400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:150872000-150873400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:150872000-150873400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:150872200-150873000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:150872200-150874000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:150872600-150873000	Enhancers	Brain Germinal Matrix	brain

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