Variant report

Variant	rs11703252
Chromosome Location	chr22:31071485-31071486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11703133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13053148	0.84[AMR][1000 genomes]
rs13053186	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13053277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13054609	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13055971	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13056033	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13057481	0.84[AMR][1000 genomes]
rs13058171	0.84[AMR][1000 genomes]
rs16988966	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35317322	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41279967	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71331258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71331260	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71331261	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71331262	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8142472	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8142842	1.00[AMR][1000 genomes];1.00[EUR][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11703252	TTC28	cis	cerebellum	SCAN
rs11703252	PLA2G3	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31064800-31075400	Weak transcription	Brain Hippocampus Middle	brain
2	chr22:31070000-31072400	Enhancers	K562	blood
3	chr22:31071200-31071600	Enhancers	Fetal Brain Female	brain
4	chr22:31071200-31071800	Enhancers	Fetal Intestine Small	intestine
5	chr22:31071400-31071600	Enhancers	Fetal Brain Male	brain
6	chr22:31071400-31071800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:31071400-31071800	Enhancers	Fetal Muscle Trunk	muscle

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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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