Variant report

Variant	rs10865649
Chromosome Location	chr3:69389842-69389843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11128126	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11707811	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1483895	0.86[CHD][hapmap];0.87[JPT][hapmap]
rs1564757	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17005647	0.84[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1872152	0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2007584	0.84[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2170800	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35331889	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4290808	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4428187	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4855308	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4855389	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56336456	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56741529	0.84[ASN][1000 genomes]
rs59563257	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6419766	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6549198	0.86[CHD][hapmap];0.87[JPT][hapmap]
rs6549203	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6771772	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6774274	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6776474	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs68061967	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7611647	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7612526	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7617464	0.96[ASN][1000 genomes]
rs9310148	0.95[ASN][1000 genomes]
rs9310149	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9861135	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9868217	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9868990	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10865649	FRMD4B	cis	multi-tissue	Pritchard

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:69378400-69390600	Weak transcription	Thymus	Thymus
3	chr3:69378400-69400600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:69380600-69393200	Weak transcription	HSMM	muscle
5	chr3:69380800-69390600	Weak transcription	Fetal Lung	lung
6	chr3:69384400-69390600	Weak transcription	Fetal Heart	heart
7	chr3:69384400-69390800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:69386000-69400200	Weak transcription	NHEK	skin
9	chr3:69387800-69393600	Enhancers	Brain Hippocampus Middle	brain
10	chr3:69388000-69390000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:69388200-69391800	Enhancers	Brain Substantia Nigra	brain
12	chr3:69388600-69391000	Enhancers	Spleen	Spleen
13	chr3:69389000-69390000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:69389000-69390000	Enhancers	Brain Angular Gyrus	brain
15	chr3:69389000-69391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:69389000-69400800	Weak transcription	Aorta	Aorta
17	chr3:69389200-69390400	Weak transcription	Right Atrium	heart
18	chr3:69389200-69390600	Weak transcription	Fetal Stomach	stomach
19	chr3:69389200-69392200	Weak transcription	Left Ventricle	heart
20	chr3:69389400-69390400	Weak transcription	Fetal Thymus	thymus
21	chr3:69389400-69391200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:69389400-69400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:69389600-69390400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:69389600-69391400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:69389800-69390000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:69389800-69390000	Enhancers	Brain Anterior Caudate	brain
27	chr3:69389800-69390600	Weak transcription	Lung	lung
28	chr3:69389800-69390800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:69389800-69391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:69389800-69391800	Enhancers	Dnd41	blood
31	chr3:69389800-69392200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:69389800-69400200	Weak transcription	HUVEC	blood vessel

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