Variant report

Variant	rs28477353
Chromosome Location	chr4:78999212-78999213
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:22)

rs_ID	r²[population]
rs10000964	0.91[EUR][1000 genomes]
rs10005124	0.90[EUR][1000 genomes]
rs1502887	0.88[EUR][1000 genomes]
rs17002912	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002918	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17002919	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17002923	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28366819	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28367528	0.91[EUR][1000 genomes]
rs28446054	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28497565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520643	0.91[EUR][1000 genomes]
rs28546473	0.88[EUR][1000 genomes]
rs28566614	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28723619	0.91[EUR][1000 genomes]
rs4340818	0.91[EUR][1000 genomes]
rs4859517	0.90[EUR][1000 genomes]
rs72858745	0.91[EUR][1000 genomes]
rs72858775	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9284616	0.91[EUR][1000 genomes]
rs9284617	0.91[EUR][1000 genomes]
rs9307331	0.91[EUR][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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78981200-79016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:78983400-79001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:78988800-79002600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:78988800-79003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:78991400-79000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:78991400-79000800	Weak transcription	Psoas Muscle	Psoas
7	chr4:78992200-79006800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:78995800-79015800	Weak transcription	HepG2	liver
9	chr4:78996200-79000400	Weak transcription	Fetal Kidney	kidney
10	chr4:78996600-79002000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:78997000-79004000	Weak transcription	Fetal Heart	heart
12	chr4:78997200-79002200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:78997200-79005800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:78997400-79000200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:78997400-79000800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:78997400-79011200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:78997600-79000400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:78997600-79000600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:78997600-79011000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:78998200-78999800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:78998200-79000600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:78998200-79001400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:78998400-79002800	Weak transcription	Pancreas	Pancrea
24	chr4:78998400-79006600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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