Variant report

Variant	rs7043959
Chromosome Location	chr9:86127539-86127540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10120060	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs10746709	0.91[CEU][hapmap]
rs10868023	0.86[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12343646	0.83[CEU][hapmap]
rs3860929	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs3860931	0.82[CEU][hapmap]
rs3860935	0.83[CEU][hapmap]
rs3860939	0.83[CEU][hapmap]
rs3860943	0.82[CEU][hapmap]
rs4097648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4520248	0.82[EUR][1000 genomes]
rs4877256	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs4877772	0.87[EUR][1000 genomes]
rs4877788	0.83[CEU][hapmap]
rs6559727	0.95[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs7019435	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7023693	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7032223	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs7041666	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7043389	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7855304	0.87[EUR][1000 genomes]
rs7873385	0.83[CEU][hapmap]

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	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1038884	chr9:86089963-86215800	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7043959	FRMD3	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86114800-86145800	Weak transcription	Aorta	Aorta
2	chr9:86115200-86141000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:86118400-86129000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:86119400-86127800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:86123200-86127600	Weak transcription	Adipose Nuclei	Adipose
6	chr9:86123800-86127600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:86123800-86129200	Weak transcription	HepG2	liver
8	chr9:86125200-86128000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:86125200-86128400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr9:86125400-86129200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr9:86125400-86131800	Weak transcription	Small Intestine	intestine
12	chr9:86126000-86128000	Enhancers	Psoas Muscle	Psoas
13	chr9:86126200-86127800	Weak transcription	Fetal Kidney	kidney
14	chr9:86126200-86127800	Enhancers	Left Ventricle	heart
15	chr9:86126800-86128800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr9:86127400-86128000	Enhancers	Right Atrium	heart

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