Variant report

Variant	rs17852457
Chromosome Location	chr7:77987685-77987686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12670218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674213	0.94[CEU][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705412	0.95[AFR][1000 genomes]
rs13246224	0.89[AFR][1000 genomes]
rs1468596	0.80[GIH][hapmap]
rs1541482	0.82[EUR][1000 genomes]
rs1541483	0.90[AFR][1000 genomes]
rs4730234	0.89[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs62461494	0.93[AFR][1000 genomes]
rs62461495	0.93[AFR][1000 genomes]
rs714438	0.85[CEU][hapmap]
rs7801139	0.93[AFR][1000 genomes]
rs7801289	0.94[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7802036	0.88[ASW][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.86[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	nsv607654	chr7:77537964-78014329	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17852457	DTX2	cis	cerebellum	SCAN
rs17852457	YWHAG	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:77972800-78001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:77975600-77992000	Weak transcription	Ovary	ovary
3	chr7:77981600-77994400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:77982000-77990000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:77985400-77989400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:77985600-77998200	Weak transcription	Brain Substantia Nigra	brain
7	chr7:77985800-77989200	Weak transcription	Fetal Heart	heart
8	chr7:77987000-77988000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:77987600-77988200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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

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