Variant report

Variant	rs71452671
Chromosome Location	chr12:119212949-119212950
allele	C/T
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	E2F6	chr12:119211603-119213338	H1-hESC	embryonic stem cell:	n/a	chr12:119213088-119213095 chr12:119213087-119213099 chr12:119213087-119213096 chr12:119213088-119213095 chr12:119213088-119213095
2	POLR2A	chr12:119211692-119212960	H1-neurons	neurons:	n/a	n/a
3	ELF1	chr12:119212699-119213068	K562	blood:	n/a	chr12:119212919-119212930 chr12:119212920-119212929 chr12:119212919-119212930 chr12:119212918-119212931
4	POLR2A	chr12:119211671-119213008	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr12:119211373-119213282	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000255618	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11069069	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11069093	0.83[EUR][1000 genomes]
rs12302664	0.83[EUR][1000 genomes]
rs12316636	0.83[EUR][1000 genomes]
rs34289882	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35814276	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35849127	1.00[EUR][1000 genomes]
rs35996751	0.95[EUR][1000 genomes]
rs57095089	1.00[EUR][1000 genomes]
rs60731054	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71452672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298004	1.00[EUR][1000 genomes]
rs7299718	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7307381	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7309737	1.00[EUR][1000 genomes]
rs7311401	0.83[EUR][1000 genomes]
rs7974231	0.83[EUR][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1039515	chr12:119085196-119218918	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045363	chr12:119091734-119219659	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv519756	chr12:119092357-119227242	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119211400-119213200	Enhancers	Fetal Brain Male	brain
2	chr12:119211800-119213000	Active TSS	Brain Anterior Caudate	brain
3	chr12:119212200-119213200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:119212600-119213000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:119212600-119213000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:119212600-119213000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:119212600-119213000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:119212600-119213000	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr12:119212600-119213000	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr12:119212600-119213200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:119212800-119213000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr12:119212800-119213000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr12:119212800-119213000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr12:119212800-119213000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr12:119212800-119213000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr12:119212800-119213000	Enhancers	Brain Angular Gyrus	brain
17	chr12:119212800-119213000	Enhancers	Brain Hippocampus Middle	brain
18	chr12:119212800-119213000	Enhancers	Brain Substantia Nigra	brain
19	chr12:119212800-119213200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:119212800-119213200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:119212800-119213200	Enhancers	Fetal Brain Female	brain

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