Variant report

Variant	rs7464428
Chromosome Location	chr8:54572995-54572996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10958388	1.00[ASN][1000 genomes]
rs11778732	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11786270	0.84[ASN][1000 genomes]
rs13259308	0.80[ASN][1000 genomes]
rs13263098	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13269498	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13274289	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13281267	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6983168	0.80[ASN][1000 genomes]
rs6992887	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720263	0.80[ASN][1000 genomes]
rs7461045	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1830188	chr8:54520350-54601462	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv1020081	chr8:54528266-54592073	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv611381	chr8:54528760-54589344	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1030947	chr8:54535233-54592073	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7464428	ATP6V1H	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54570400-54573600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:54570600-54573000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:54570800-54573800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:54571000-54573200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:54571200-54573000	Enhancers	HUVEC	blood vessel
6	chr8:54571200-54573200	Enhancers	Brain Germinal Matrix	brain
7	chr8:54571400-54573200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:54571400-54573400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:54571400-54573600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:54571400-54573800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:54571400-54581800	Weak transcription	Right Atrium	heart
12	chr8:54571400-54583600	Weak transcription	Pancreas	Pancrea
13	chr8:54571600-54573000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:54571600-54573000	Enhancers	HepG2	liver
15	chr8:54571600-54574400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:54571600-54577600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:54572000-54573200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:54572000-54574600	Weak transcription	Fetal Brain Male	brain
19	chr8:54572400-54573400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:54572600-54573600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:54572600-54574000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:54572800-54573200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:54572800-54573200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:54572800-54573600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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