Variant report

Variant	rs566433
Chromosome Location	chr1:175817502-175817503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1340998	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1575824	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1750293	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1925947	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2090977	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2209558	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2222419	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs485526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515007	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6656072	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6667697	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6667913	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7537751	0.83[EUR][1000 genomes]
rs860895	0.94[EUR][1000 genomes]
rs990707	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175815800-175830400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175816200-175817600	Enhancers	Fetal Brain Male	brain
3	chr1:175817200-175817600	Flanking Active TSS	Brain Substantia Nigra	brain
4	chr1:175817400-175817600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:175817400-175817600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:175817400-175817600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:175817400-175817600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:175817400-175817600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:175817400-175817600	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr1:175817400-175817600	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr1:175817400-175817600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr1:175817400-175817600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:175817400-175817800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:175817400-175817800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:175817400-175817800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:175817400-175817800	Active TSS	Brain Cingulate Gyrus	brain
17	chr1:175817400-175818000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:175817400-175818000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:175817400-175818000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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