Variant report

Variant	rs28415588
Chromosome Location	chr4:62255308-62255309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1456862	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17238968	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28491363	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28628386	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28705222	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9312076	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9992321	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv879075	chr4:62124531-62354791	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv461376	chr4:62187646-62274626	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv594327	chr4:62187646-62274626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879076	chr4:62251077-62354791	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr4:62241000-62255600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:62247400-62255400	Weak transcription	Fetal Heart	heart
3	chr4:62247600-62262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:62251200-62263000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:62251200-62266200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:62251400-62255400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:62251800-62255400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:62253200-62255600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:62253800-62255600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:62253800-62255600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:62253800-62255600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:62254400-62255800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:62254600-62255400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:62254600-62255600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:62254600-62256400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:62254600-62273400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:62255200-62255800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:62255200-62256200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:62255200-62260000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:62255200-62263000	Weak transcription	H1 Cell Line	embryonic stem cell

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