Variant report

Variant	rs4418610
Chromosome Location	chr1:222008026-222008027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11577677	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11590053	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12125690	0.89[TSI][hapmap]
rs17010889	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3010850	0.85[EUR][1000 genomes]
rs4551601	0.93[EUR][1000 genomes]
rs4639769	0.96[EUR][1000 genomes]
rs61825191	0.96[EUR][1000 genomes]
rs61825193	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61825195	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7514382	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7515604	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544656	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9441877	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9441974	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9441979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4418610	AIDA	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222000000-222010200	Enhancers	HMEC	breast
3	chr1:222000600-222019000	Weak transcription	Lung	lung
4	chr1:222000800-222009800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:222000800-222011000	Weak transcription	Thymus	Thymus
6	chr1:222001200-222011000	Weak transcription	Fetal Thymus	thymus
7	chr1:222001400-222008600	Enhancers	NHEK	skin
8	chr1:222001800-222009400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:222002400-222008400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:222003400-222009200	Weak transcription	GM12878-XiMat	blood
11	chr1:222003600-222009800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:222004200-222008400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:222004200-222011000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:222004200-222012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:222004400-222011000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:222004600-222011200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:222004800-222008600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:222004800-222009600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:222005600-222009400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:222005800-222019000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:222006200-222012600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:222006400-222011400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:222006800-222008600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:222006800-222012600	Weak transcription	Esophagus	oesophagus
25	chr1:222007000-222010600	Enhancers	Hela-S3	cervix
26	chr1:222007600-222008800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:222007600-222011400	Weak transcription	HUVEC	blood vessel
28	chr1:222007800-222010000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:222008000-222008200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:222008000-222008200	Enhancers	Psoas Muscle	Psoas
31	chr1:222008000-222008400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:222008000-222008600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:222008000-222008800	Enhancers	Fetal Lung	lung

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