Variant report

Variant	rs4314618
Chromosome Location	chr8:10816772-10816773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10086778	1.00[JPT][hapmap]
rs10086872	1.00[JPT][hapmap]
rs10087923	0.90[ASN][1000 genomes]
rs10088408	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10094007	1.00[JPT][hapmap]
rs10094684	1.00[JPT][hapmap]
rs10095039	1.00[JPT][hapmap]
rs10095261	1.00[JPT][hapmap]
rs10095390	1.00[JPT][hapmap]
rs10096381	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10096421	0.89[EUR][1000 genomes]
rs10096511	0.90[EUR][1000 genomes]
rs10096624	1.00[JPT][hapmap]
rs10096872	1.00[JPT][hapmap]
rs10097626	1.00[JPT][hapmap]
rs10098549	1.00[JPT][hapmap]
rs10106574	1.00[JPT][hapmap]
rs10107544	1.00[JPT][hapmap]
rs10107658	1.00[JPT][hapmap]
rs10109025	0.92[ASN][1000 genomes]
rs10111178	1.00[JPT][hapmap]
rs10111950	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250097	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11250098	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11250099	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11250100	1.00[JPT][hapmap]
rs11985330	1.00[JPT][hapmap]
rs11995188	1.00[JPT][hapmap]
rs34738102	0.82[EUR][1000 genomes]
rs35792458	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35910832	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4265148	1.00[JPT][hapmap]
rs4434585	1.00[JPT][hapmap]
rs4451266	0.82[EUR][1000 genomes]
rs4451267	0.83[EUR][1000 genomes]
rs4623374	1.00[JPT][hapmap]
rs4626559	1.00[JPT][hapmap]
rs4645525	1.00[JPT][hapmap]
rs4841465	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841466	0.82[EUR][1000 genomes]
rs6601540	1.00[JPT][hapmap]
rs6601544	0.83[EUR][1000 genomes]
rs6982927	1.00[JPT][hapmap]
rs6996943	0.83[EUR][1000 genomes]
rs7008460	1.00[JPT][hapmap]
rs7010262	0.82[EUR][1000 genomes]
rs7010719	0.83[EUR][1000 genomes]
rs7011106	0.82[EUR][1000 genomes]
rs7011268	0.83[EUR][1000 genomes]
rs7013277	0.81[ASN][1000 genomes]
rs7014861	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv521721	chr8:10802102-10836472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv518360	chr8:10805015-10816873	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4314618	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs4314618	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs4314618	C8orf13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10807400-10818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:10810400-10818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10815000-10817600	Weak transcription	Fetal Brain Male	brain
4	chr8:10815000-10820800	Enhancers	Fetal Muscle Leg	muscle
5	chr8:10815200-10816800	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:10815200-10818200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:10815400-10818600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:10816000-10818400	Weak transcription	Brain Hippocampus Middle	brain

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