Variant report

Variant	rs4480395
Chromosome Location	chr1:171218955-171218956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10157270	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10489230	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798240	0.84[ASN][1000 genomes]
rs10798252	0.88[ASN][1000 genomes]
rs10798253	0.91[ASN][1000 genomes]
rs10798263	0.91[JPT][hapmap]
rs10912475	0.84[ASN][1000 genomes]
rs10912529	0.90[ASN][1000 genomes]
rs10912537	0.91[JPT][hapmap]
rs10912542	0.91[ASN][1000 genomes]
rs10912552	0.91[JPT][hapmap]
rs11806072	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12069067	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12078953	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12080576	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12090485	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12133385	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12405613	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566823	0.91[JPT][hapmap]
rs12567956	0.89[ASN][1000 genomes]
rs12730305	0.90[ASN][1000 genomes]
rs13353034	0.89[YRI][hapmap]
rs16864245	0.89[YRI][hapmap]
rs17350523	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1989656	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008706	0.84[ASN][1000 genomes]
rs2020862	0.91[JPT][hapmap]
rs2049922	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2064078	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075987	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2075990	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2075991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2179105	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2205723	0.91[ASN][1000 genomes]
rs2205724	0.91[JPT][hapmap]
rs2205727	0.97[ASN][1000 genomes]
rs2205728	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2205729	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2223228	0.90[ASN][1000 genomes]
rs2223232	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236874	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2421709	0.88[ASN][1000 genomes]
rs2421710	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2421711	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35152982	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3738813	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs3754494	0.84[ASN][1000 genomes]
rs3754495	0.91[JPT][hapmap]
rs3768569	0.91[JPT][hapmap]
rs3768570	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4916182	0.91[ASN][1000 genomes]
rs4916191	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916192	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425394	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425413	0.96[ASN][1000 genomes]
rs6657314	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6672029	0.93[ASN][1000 genomes]
rs6692260	0.91[ASN][1000 genomes]
rs6692347	0.91[JPT][hapmap]
rs6699803	0.91[ASN][1000 genomes]
rs6701076	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6703439	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7513485	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7520777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7524635	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7525342	0.84[ASN][1000 genomes]
rs7529080	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7531713	0.92[ASN][1000 genomes]
rs7531971	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7536822	0.96[ASN][1000 genomes]
rs7538013	0.89[ASN][1000 genomes]
rs7545923	0.84[ASN][1000 genomes]
rs7553869	0.94[ASN][1000 genomes]
rs926268	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4480395	FMO2	cis	parietal	SCAN
rs4480395	FMO2	cis	Artery Tibial	GTEx
rs4480395	RP1-127D3.4	cis	Artery Tibial	GTEx
rs4480395	DUSP27	cis	parietal	SCAN
rs4480395	TIPRL	cis	parietal	SCAN
rs4480395	FMO2	cis	cerebellum	SCAN
rs4480395	FMO3	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171200800-171220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:171215800-171220200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:171216000-171220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:171217000-171220200	Weak transcription	Pancreas	Pancrea
5	chr1:171217200-171220400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:171217200-171220400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:171217600-171219800	Active TSS	Fetal Kidney	kidney
8	chr1:171217600-171220200	Weak transcription	Liver	Liver
9	chr1:171217600-171221000	Active TSS	Fetal Intestine Small	intestine
10	chr1:171217600-171221200	Active TSS	Fetal Intestine Large	intestine
11	chr1:171218000-171219000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:171218400-171219000	Enhancers	NHDF-Ad	bronchial
13	chr1:171218400-171220200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:171218600-171219000	Bivalent Enhancer	Right Atrium	heart
15	chr1:171218800-171219000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:171218800-171219000	Enhancers	NHEK	skin
17	chr1:171218800-171219400	Active TSS	Fetal Lung	lung

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