Variant report

Variant	rs59093574
Chromosome Location	chr1:224866871-224866872
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224863922..224865503-chr1:224866664..224869416,2	K562	blood:
2	chr1:224859647..224863135-chr1:224864370..224868600,5	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12239521	1.00[ASN][1000 genomes]
rs16851979	1.00[ASN][1000 genomes]
rs56331910	1.00[AMR][1000 genomes]
rs56803202	1.00[AMR][1000 genomes]
rs56879180	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57247814	0.91[ASN][1000 genomes]
rs57257659	1.00[AMR][1000 genomes]
rs58011163	0.91[ASN][1000 genomes]
rs58316565	1.00[ASN][1000 genomes]
rs58632343	0.91[ASN][1000 genomes]
rs58793647	1.00[ASN][1000 genomes]
rs58973007	1.00[ASN][1000 genomes]
rs59151274	1.00[ASN][1000 genomes]
rs60017318	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60031851	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60936981	0.91[ASN][1000 genomes]
rs61625041	1.00[ASN][1000 genomes]
rs61631299	0.91[ASN][1000 genomes]
rs61674651	1.00[AMR][1000 genomes]
rs6426151	1.00[ASN][1000 genomes]
rs6661687	1.00[ASN][1000 genomes]
rs6680134	1.00[AMR][1000 genomes]
rs6692860	1.00[ASN][1000 genomes]
rs74146215	1.00[AMR][1000 genomes]
rs74146216	1.00[AMR][1000 genomes]
rs74146218	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74146220	1.00[AMR][1000 genomes]
rs74146224	1.00[AMR][1000 genomes]
rs7513442	1.00[ASN][1000 genomes]
rs7545558	1.00[ASN][1000 genomes]
rs7555388	1.00[ASN][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:224832800-224869000	Weak transcription	Dnd41	blood
3	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:224857200-224869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224857200-224869200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:224858400-224871800	Weak transcription	NHLF	lung
7	chr1:224858400-224874200	Weak transcription	NH-A	brain
8	chr1:224859600-224871400	Weak transcription	NHDF-Ad	bronchial
9	chr1:224861200-224876800	Weak transcription	Ovary	ovary
10	chr1:224862400-224902000	Weak transcription	Pancreas	Pancrea
11	chr1:224862800-224869400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:224864000-224876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:224864600-224869000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:224864600-224871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:224864800-224869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:224864800-224869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:224865600-224867800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:224865800-224867800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:224866400-224868400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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