Variant report

Variant	rs16914072
Chromosome Location	chr8:50854630-50854631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10504095	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1385981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1486250	1.00[AMR][1000 genomes]
rs16913161	1.00[AMR][1000 genomes]
rs16913802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16913889	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914067	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914073	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914102	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914116	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914197	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16914203	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16914226	1.00[AMR][1000 genomes]
rs16914261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914268	1.00[YRI][hapmap]
rs16914274	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914298	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16914072	SYPL2	trans	lymphoblastoid	seeQTL
rs16914072	LTF	trans	lymphoblastoid	seeQTL
rs16914072	SHE	trans	lymphoblastoid	seeQTL
rs16914072	ZEB2	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50848800-50857800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:50853200-50855200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:50853400-50854800	Enhancers	Brain Germinal Matrix	brain
4	chr8:50854400-50854800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	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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