Variant report

Variant	rs4873548
Chromosome Location	chr8:52298687-52298688
allele	C/T
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:29)

rs_ID	r²[population]
rs10096044	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10104348	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12550699	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1367820	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1811360	0.85[EUR][1000 genomes]
rs1975113	0.85[EUR][1000 genomes]
rs2082279	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915492	0.85[EUR][1000 genomes]
rs2915493	0.85[EUR][1000 genomes]
rs2915495	0.85[EUR][1000 genomes]
rs2915502	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2915504	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2915505	0.85[EUR][1000 genomes]
rs2976998	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2976999	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2977000	0.85[EUR][1000 genomes]
rs2977001	0.85[EUR][1000 genomes]
rs2977002	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2977003	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2977004	0.81[EUR][1000 genomes]
rs2977005	0.85[EUR][1000 genomes]
rs2977008	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2977010	0.83[EUR][1000 genomes]
rs2977012	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2977015	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2977020	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3097700	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3097702	0.85[EUR][1000 genomes]
rs961353	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52296200-52301600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:52296600-52301400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:52296600-52301400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:52296600-52301600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:52296600-52301600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:52296800-52301600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:52296800-52301600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:52296800-52301800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:52296800-52301800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:52297000-52301600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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