Variant report

Variant	rs1469550
Chromosome Location	chr7:150872363-150872364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
GBX1	TF binding region
ENSG00000133612	Chromatin interaction
ENSG00000146926	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000164900	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12532992	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12533831	0.84[ASW][hapmap];0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12703116	0.88[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13241978	0.91[EUR][1000 genomes]
rs2257069	0.88[CHB][hapmap]
rs2257073	0.89[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap]
rs2257090	0.88[CHD][hapmap];0.84[JPT][hapmap]
rs2435609	0.88[CHB][hapmap]
rs2487151	0.88[CHB][hapmap]
rs3823588	0.81[MKK][hapmap]
rs4726000	1.00[LWK][hapmap];0.93[MKK][hapmap];0.87[YRI][hapmap]
rs4726003	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4726005	0.84[CEU][hapmap]
rs4726006	0.94[ASN][1000 genomes]
rs67235637	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6957410	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs767866	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs7805266	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv609034	chr7:150830015-150893629	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1469550	GIMAP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150865600-150877800	Weak transcription	Right Atrium	heart
2	chr7:150868600-150877800	Weak transcription	Left Ventricle	heart
3	chr7:150870000-150872400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:150871800-150872600	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr7:150871800-150872600	Enhancers	Right Ventricle	heart
6	chr7:150872000-150872600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150872000-150877800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:150872200-150872400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr7:150872200-150872600	Enhancers	Fetal Heart	heart

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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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