Variant report

Variant	rs6930275
Chromosome Location	chr6:69416860-69416861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:69349314..69351973-chr6:69416825..69419613,2	K562	blood:
2	chr6:69415960..69417557-chr6:69419108..69420686,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12194992	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12196021	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12197039	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523931	0.87[ASN][1000 genomes]
rs2024561	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254150	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585593	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585594	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746126	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2746129	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28395490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607402	0.80[ASN][1000 genomes]
rs478070	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs530888	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639338	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6455297	1.00[ASN][1000 genomes]
rs6908159	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753280	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9342730	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9342731	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9346233	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9346234	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9346236	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9346237	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9346238	1.00[ASN][1000 genomes]
rs9351734	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9351735	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9354797	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6930275	RP3-525N10.2	cis	Whole Blood	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69406000-69417800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:69406000-69419600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:69407600-69417600	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:69407600-69417800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:69411800-69417600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:69412200-69418200	Weak transcription	Brain Substantia Nigra	brain
7	chr6:69414400-69419800	Weak transcription	Fetal Lung	lung
8	chr6:69414600-69418800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:69414600-69419000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:69414800-69417600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:69414800-69417600	Weak transcription	Brain Anterior Caudate	brain
12	chr6:69415400-69418800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:69415600-69418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:69415800-69419000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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