Variant report

Variant	rs578685
Chromosome Location	chr8:9823769-9823770
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	chr8:9823483..9825109-chr8:9827263..9829750,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11778848	1.00[AMR][1000 genomes]
rs2137788	1.00[AMR][1000 genomes]
rs2175845	1.00[AMR][1000 genomes]
rs28521097	1.00[AMR][1000 genomes]
rs28706097	1.00[AMR][1000 genomes]
rs2898236	1.00[AMR][1000 genomes]
rs471930	0.92[AFR][1000 genomes]
rs4840451	1.00[AMR][1000 genomes]
rs4841248	1.00[AMR][1000 genomes]
rs4841249	1.00[AMR][1000 genomes]
rs486885	1.00[AMR][1000 genomes]
rs494997	0.98[AFR][1000 genomes]
rs542203	1.00[AMR][1000 genomes]
rs553191	0.98[AFR][1000 genomes]
rs580415	0.98[AFR][1000 genomes]
rs589424	1.00[AMR][1000 genomes]
rs6601394	1.00[AMR][1000 genomes]
rs660923	1.00[AMR][1000 genomes]
rs668151	0.88[AFR][1000 genomes]
rs670475	1.00[AMR][1000 genomes]
rs6984048	1.00[AMR][1000 genomes]
rs6985570	1.00[AMR][1000 genomes]
rs7002484	1.00[AMR][1000 genomes]
rs7008206	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1023834	chr8:9798072-9904788	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1021038	chr8:9806824-9842234	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1034165	chr8:9821150-9906812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv539465	chr8:9821150-9906812	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9821800-9824200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:9822400-9834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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