Variant report

Variant	rs4317105
Chromosome Location	chr3:69412344-69412345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11714469	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11720197	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13066342	0.83[YRI][hapmap]
rs13066443	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17350262	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1905474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34458014	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34609588	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34841224	0.83[ASN][1000 genomes]
rs4855390	0.83[ASN][1000 genomes]
rs58610235	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66514154	0.83[ASN][1000 genomes]
rs767285	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv520818	chr3:69401248-69421495	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4317105	FRMD4B	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69400600-69412800	Weak transcription	Esophagus	oesophagus
2	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:69402800-69413000	Weak transcription	Aorta	Aorta
4	chr3:69403000-69414800	Weak transcription	Lung	lung
5	chr3:69403800-69413000	Weak transcription	Thymus	Thymus
6	chr3:69406600-69412800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:69406800-69413000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:69406800-69413400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:69407000-69412800	Weak transcription	HSMM	muscle
10	chr3:69407400-69412800	Weak transcription	NHEK	skin
11	chr3:69407400-69413200	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:69407600-69413000	Weak transcription	HMEC	breast
13	chr3:69408400-69412800	Weak transcription	Fetal Thymus	thymus
14	chr3:69408600-69413000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:69408600-69413000	Weak transcription	HSMMtube	muscle
16	chr3:69408800-69412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:69409400-69413000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:69409800-69413000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:69409800-69413400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:69410000-69412800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:69410000-69413200	Weak transcription	HUVEC	blood vessel
22	chr3:69410200-69417400	Weak transcription	Fetal Lung	lung
23	chr3:69411400-69412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:69411800-69412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:69412200-69415400	Enhancers	Dnd41	blood

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