Variant report

Variant	rs12118970
Chromosome Location	chr1:175842390-175842391
allele	A/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	EBF1	chr1:175842353-175842840	GM12878	blood:	n/a	chr1:175842628-175842641 chr1:175842630-175842639
2	EP300	chr1:175842376-175842721	GM12878	blood:	n/a	n/a
3	EBF1	chr1:175842301-175842943	GM12878	blood:	n/a	chr1:175842628-175842641 chr1:175842630-175842639

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175840723..175842476-chr1:175845280..175846892,2	K562	blood:

Variant related genes	Relation type
ENSG00000224718	TF binding region
ENSG00000224718	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10913091	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1361521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16849285	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478276	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500894	0.90[EUR][1000 genomes]
rs524684	0.83[EUR][1000 genomes]
rs72711130	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72711137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7517760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522255	chr1:175827683-175849898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175835600-175848200	Weak transcription	Aorta	Aorta
2	chr1:175836000-175845400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:175837400-175843200	Enhancers	Brain Substantia Nigra	brain
4	chr1:175838600-175845600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:175838800-175847400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:175839800-175845600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:175839800-175845600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:175840200-175842400	Enhancers	Fetal Heart	heart
9	chr1:175841400-175842600	Weak transcription	Brain Anterior Caudate	brain
10	chr1:175841400-175842800	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:175841400-175844200	Weak transcription	Right Ventricle	heart
12	chr1:175841600-175846200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:175841600-175846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:175841800-175842400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:175841800-175842600	Weak transcription	Fetal Lung	lung
16	chr1:175842000-175846400	Weak transcription	Brain Angular Gyrus	brain
17	chr1:175842000-175846800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:175842200-175842600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:175842200-175842800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:175842200-175842800	Enhancers	GM12878-XiMat	blood
21	chr1:175842200-175843000	Enhancers	Brain Hippocampus Middle	brain
22	chr1:175842200-175843400	Enhancers	Brain Germinal Matrix	brain
23	chr1:175842200-175845400	Weak transcription	Fetal Muscle Leg	muscle

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