Variant report

Variant	rs56004227
Chromosome Location	chr1:67135499-67135500
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	EP300	chr1:67134894-67135836	SK-N-SH	brain:	n/a	chr1:67135384-67135391

Variant related genes	Relation type
SGIP1	TF binding region

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10493413	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12407460	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1325264	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17129302	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17129310	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17129313	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17129315	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17129318	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45467391	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6692318	0.87[ASN][1000 genomes]
rs6703606	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669476	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669484	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
3	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:67108000-67136200	Weak transcription	Fetal Brain Female	brain
5	chr1:67109200-67141800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
7	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:67114200-67142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:67114600-67142200	Weak transcription	NHLF	lung
11	chr1:67118800-67138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:67118800-67140400	Weak transcription	Aorta	Aorta
13	chr1:67121200-67145400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:67122000-67141200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:67131800-67141600	Weak transcription	NH-A	brain
16	chr1:67133200-67139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:67133200-67141800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:67134000-67136000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:67134400-67135600	Enhancers	Brain Substantia Nigra	brain
20	chr1:67135000-67137200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:67135000-67137800	Enhancers	Fetal Brain Male	brain
22	chr1:67135200-67135600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:67135200-67154200	Weak transcription	Brain Hippocampus Middle	brain

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