Variant report

Variant	rs72890558
Chromosome Location	chr1:45785914-45785915
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs28472700	1.00[AMR][1000 genomes]
rs55786026	1.00[AMR][1000 genomes]
rs56015816	1.00[AMR][1000 genomes]
rs56328440	1.00[AMR][1000 genomes]
rs56359961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59831088	1.00[AMR][1000 genomes]
rs6686117	1.00[EUR][1000 genomes]
rs6692066	1.00[AMR][1000 genomes]
rs72890537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890555	0.87[AFR][1000 genomes]
rs72890556	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890585	1.00[AMR][1000 genomes]
rs72890600	1.00[AMR][1000 genomes]
rs74072235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519633	1.00[AMR][1000 genomes]
rs7549045	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7554112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7555357	0.85[AFR][1000 genomes];1.00[EUR][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	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45783200-45788600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:45783400-45787200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr1:45783600-45786000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:45784800-45786000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:45785000-45786400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:45785400-45786000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:45785400-45787400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:45785400-45788600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:45785600-45786000	Weak transcription	Spleen	Spleen
10	chr1:45785600-45786600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:45785600-45787800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:45785600-45788400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:45785800-45786200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:45785800-45786200	Enhancers	K562	blood
15	chr1:45785800-45786400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:45785800-45786600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:45785800-45787000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:45785800-45787200	Enhancers	HepG2	liver

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

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