Variant report

Variant	rs2872805
Chromosome Location	chr3:69426612-69426613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13091630	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1483887	0.83[ASN][1000 genomes]
rs1843045	0.95[CEU][hapmap]
rs2200247	0.83[CEU][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4855310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4855399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	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	esv2760780	chr3:69413876-69513947	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2872805	FRMD4B	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69420000-69427400	Weak transcription	Pancreas	Pancrea
2	chr3:69420600-69433600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:69421000-69433600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:69421200-69428000	Weak transcription	HSMMtube	muscle
5	chr3:69421400-69427400	Weak transcription	HSMM	muscle
6	chr3:69421400-69428800	Weak transcription	Brain Anterior Caudate	brain
7	chr3:69421400-69428800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:69421400-69429000	Weak transcription	Spleen	Spleen
9	chr3:69421400-69429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:69421400-69430400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:69421400-69432600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:69421400-69433400	Weak transcription	Aorta	Aorta
13	chr3:69421400-69433800	Weak transcription	Lung	lung
14	chr3:69421400-69433800	Weak transcription	Right Atrium	heart
15	chr3:69421600-69429000	Weak transcription	NHEK	skin
16	chr3:69421600-69433600	Weak transcription	HMEC	breast
17	chr3:69423800-69429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:69425400-69427000	Enhancers	Brain Substantia Nigra	brain
19	chr3:69425400-69428600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:69425600-69427800	Enhancers	Fetal Lung	lung
21	chr3:69426000-69427000	Enhancers	Thymus	Thymus
22	chr3:69426000-69427800	Enhancers	Fetal Thymus	thymus
23	chr3:69426000-69431200	Enhancers	Brain Angular Gyrus	brain
24	chr3:69426200-69428400	Enhancers	Brain Hippocampus Middle	brain
25	chr3:69426200-69432800	Enhancers	Dnd41	blood
26	chr3:69426400-69426800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr3:69426400-69426800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:69426600-69427800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:69426600-69428000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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