Variant report

Variant	rs591346
Chromosome Location	chr8:9818065-9818066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10087802	1.00[JPT][hapmap]
rs10088890	0.86[JPT][hapmap]
rs10090114	0.89[JPT][hapmap]
rs10098342	0.90[JPT][hapmap]
rs10216752	0.90[JPT][hapmap]
rs1023961	0.89[JPT][hapmap]
rs11786541	0.92[CEU][hapmap]
rs11984513	0.89[JPT][hapmap]
rs13249486	0.89[JPT][hapmap]
rs13282106	0.89[JPT][hapmap]
rs1484639	0.89[JPT][hapmap]
rs1484640	0.88[JPT][hapmap]
rs1484642	0.89[JPT][hapmap]
rs1531918	0.89[JPT][hapmap]
rs1531919	0.89[JPT][hapmap]
rs17150841	0.81[ASN][1000 genomes]
rs17151071	0.90[JPT][hapmap]
rs17689674	0.89[JPT][hapmap]
rs17739113	0.89[JPT][hapmap]
rs17739179	0.89[JPT][hapmap]
rs2046399	0.89[JPT][hapmap]
rs2046400	0.89[JPT][hapmap]
rs2062333	0.88[JPT][hapmap]
rs2220149	0.89[JPT][hapmap]
rs2220150	0.89[JPT][hapmap]
rs2409619	0.91[AFR][1000 genomes]
rs2628140	0.89[JPT][hapmap]
rs483916	0.96[CEU][hapmap]
rs4841261	0.91[AFR][1000 genomes]
rs4841281	0.89[JPT][hapmap]
rs4841284	0.89[JPT][hapmap]
rs609283	0.89[AFR][1000 genomes]
rs7005350	0.89[JPT][hapmap]
rs728878	0.89[JPT][hapmap]
rs7812741	0.86[JPT][hapmap]
rs7833387	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs7833895	0.89[JPT][hapmap]
rs814405	0.89[JPT][hapmap]
rs923046	0.89[JPT][hapmap]
rs9329213	0.90[JPT][hapmap]
rs9329216	0.89[JPT][hapmap]
rs963592	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs591346	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs591346	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9815800-9818800	Weak transcription	Fetal Brain Male	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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