Variant report

Variant	rs3006399
Chromosome Location	chr10:44002994-44002995
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10793431	0.86[TSI][hapmap]
rs10899812	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238567	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1338558	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17153606	0.89[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap]
rs2066044	0.92[TSI][hapmap]
rs2252783	0.92[TSI][hapmap]
rs2252785	0.92[TSI][hapmap]
rs2260200	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs2265886	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs2393950	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2492405	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs2493648	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs2999225	0.82[EUR][1000 genomes]
rs2999226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3006401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006402	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006406	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3006407	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3999097	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4367906	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4597022	0.92[TSI][hapmap]
rs57527133	0.89[ASN][1000 genomes]
rs61859999	0.89[ASN][1000 genomes]
rs7901121	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7914140	0.83[CEU][hapmap]
rs9422371	0.82[CEU][hapmap]
rs9422519	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1046236	chr10:43968075-44012933	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1051325	chr10:43988273-44022473	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1797129	chr10:43996713-44002994	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
5	esv275081	chr10:43996713-44018932	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1816330	chr10:43999354-44002994	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3006399	RASGEF1A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43987400-44003200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:43998000-44005000	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:44002200-44003000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
4	chr10:44002800-44003200	Weak transcription	Brain Cingulate Gyrus	brain

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