Variant report

Variant	rs1843045
Chromosome Location	chr3:69413121-69413122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1010315	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12629224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629229	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631128	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061189	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13075664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077078	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483888	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483889	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483890	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1483891	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1564756	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17005647	0.82[CHB][hapmap]
rs1843046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1843049	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1843050	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2007578	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007584	0.82[CHB][hapmap]
rs2200247	0.87[CEU][hapmap]
rs2872805	0.95[CEU][hapmap]
rs34184121	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4428187	0.80[CHD][hapmap]
rs4855310	0.95[CEU][hapmap]
rs4855399	0.95[CEU][hapmap]
rs6419767	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6549207	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6549209	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6762186	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6774761	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774867	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778232	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780513	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6783070	0.94[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807930	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900670	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900671	0.99[ASN][1000 genomes]
rs9825845	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9825849	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861135	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs9868990	0.82[CHD][hapmap]

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
rs1843045	FRMD4B	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69403000-69414800	Weak transcription	Lung	lung
3	chr3:69406800-69413400	Weak transcription	Brain Angular Gyrus	brain
4	chr3:69407400-69413200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:69409800-69413400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:69410000-69413200	Weak transcription	HUVEC	blood vessel
7	chr3:69410200-69417400	Weak transcription	Fetal Lung	lung
8	chr3:69412200-69415400	Enhancers	Dnd41	blood
9	chr3:69412800-69413200	Genic enhancers	NHEK	skin
10	chr3:69412800-69413400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:69412800-69413600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:69412800-69413600	Enhancers	Esophagus	oesophagus
13	chr3:69412800-69413600	Enhancers	Fetal Thymus	thymus
14	chr3:69412800-69413800	Genic enhancers	HSMM	muscle
15	chr3:69412800-69414000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:69412800-69414200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:69412800-69414600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:69412800-69415000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:69412800-69415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:69413000-69413600	Enhancers	Aorta	Aorta
21	chr3:69413000-69413600	Enhancers	Brain Substantia Nigra	brain
22	chr3:69413000-69413600	Enhancers	Hela-S3	cervix
23	chr3:69413000-69413600	Enhancers	HSMMtube	muscle
24	chr3:69413000-69413800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:69413000-69413800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:69413000-69414000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:69413000-69414000	Enhancers	Thymus	Thymus
28	chr3:69413000-69414400	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:69413000-69414600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:69413000-69414600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:69413000-69414800	Enhancers	GM12878-XiMat	blood
32	chr3:69413000-69414800	Enhancers	HMEC	breast
33	chr3:69413000-69415000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:69413000-69415000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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