Variant report

Variant	rs593257
Chromosome Location	chr1:58621708-58621709
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10889086	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1776183	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1981196	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2806399	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3850537	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs471080	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs488944	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs501582	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs502534	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs507981	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs538348	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs544369	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs547620	0.90[EUR][1000 genomes]
rs548745	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs572888	0.91[EUR][1000 genomes]
rs60404864	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs625994	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs677451	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7524008	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr1:58619800-58622200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:58620000-58622600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:58620200-58622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:58620800-58621800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:58620800-58622200	Weak transcription	Left Ventricle	heart
6	chr1:58620800-58623000	Enhancers	Fetal Heart	heart
7	chr1:58620800-58623400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:58620800-58625200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:58621000-58622000	Enhancers	Liver	Liver
10	chr1:58621000-58622200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:58621000-58622400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:58621200-58621800	Enhancers	Fetal Brain Male	brain
13	chr1:58621200-58623000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:58621200-58624200	Weak transcription	Thymus	Thymus
15	chr1:58621200-58625200	Enhancers	GM12878-XiMat	blood
16	chr1:58621200-58626400	Enhancers	Fetal Thymus	thymus
17	chr1:58621200-58626800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:58621200-58629400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:58621400-58622400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:58621400-58624600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:58621600-58623200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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