Variant report

Variant	rs72909216
Chromosome Location	chr1:57875726-57875727
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17425707	0.83[EUR][1000 genomes]
rs530401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561221	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58055453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57871000-57887600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57873200-57877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:57873600-57877600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:57874200-57878400	Enhancers	Hela-S3	cervix
5	chr1:57874400-57876000	Weak transcription	Fetal Brain Female	brain
6	chr1:57874400-57876400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:57874400-57876800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:57874600-57876200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:57874600-57877000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:57874800-57876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:57874800-57876200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:57874800-57876200	Weak transcription	Stomach Mucosa	stomach
13	chr1:57875000-57876200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:57875200-57876800	Weak transcription	HSMMtube	muscle
15	chr1:57875200-57877400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:57875400-57876200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:57875400-57877200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:57875400-57877600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:57875400-57877800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:57875600-57876200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:57875600-57876400	Enhancers	Fetal Brain Male	brain
22	chr1:57875600-57877600	Enhancers	Fetal Heart	heart

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