Variant report

Variant	rs72890351
Chromosome Location	chr1:47449274-47449275
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs45527338	1.00[AMR][1000 genomes]
rs45568538	1.00[AMR][1000 genomes]
rs4660984	1.00[AMR][1000 genomes]
rs56716388	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274256	1.00[AMR][1000 genomes]
rs58437494	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58501789	1.00[AMR][1000 genomes]
rs58867903	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60494771	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60785285	1.00[AMR][1000 genomes]
rs61284575	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692757	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886530	1.00[AMR][1000 genomes]
rs72888469	1.00[AMR][1000 genomes]
rs72890336	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890338	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890355	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522638	1.00[AMR][1000 genomes]
rs7541790	1.00[AMR][1000 genomes]
rs9332997	1.00[AMR][1000 genomes]
rs9333002	1.00[AMR][1000 genomes]
rs9333008	1.00[AMR][1000 genomes]
rs9333036	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv546166	chr1:47407739-47495605	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv870674	chr1:47416441-47517123	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47448400-47449400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:47448400-47449800	Enhancers	Fetal Muscle Leg	muscle
3	chr1:47448400-47450400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47448400-47450600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:47448400-47450800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:47448400-47450800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47448400-47451200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:47448600-47450000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:47448600-47450400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:47448600-47450800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:47448600-47451000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:47448800-47449600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:47448800-47449600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:47448800-47449600	Enhancers	Brain Germinal Matrix	brain
15	chr1:47448800-47449800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:47448800-47450800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:47449000-47449400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:47449200-47449600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:47449200-47449800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:47449200-47450000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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