Variant report

Variant	rs11806072
Chromosome Location	chr1:171156997-171156998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10157270	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10489230	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798240	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798252	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798253	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798263	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs10912475	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912484	0.82[AMR][1000 genomes]
rs10912529	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912537	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs10912542	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912552	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs12069067	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12078953	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12080576	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12090485	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12132443	0.82[AMR][1000 genomes]
rs12133385	0.92[ASN][1000 genomes]
rs12134777	0.82[AMR][1000 genomes]
rs12405613	0.92[ASN][1000 genomes]
rs12406402	0.82[AMR][1000 genomes]
rs12566823	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs12567956	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12730305	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12744605	0.84[AMR][1000 genomes]
rs17350523	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1989656	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2008706	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2020861	0.81[EUR][1000 genomes]
rs2020862	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs2049922	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2064078	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075987	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075990	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075991	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[ASN][1000 genomes]
rs2179105	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2205723	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2205724	0.95[JPT][hapmap]
rs2205727	0.91[ASN][1000 genomes]
rs2205728	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205729	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2205730	0.82[AMR][1000 genomes]
rs2223228	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2223232	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236874	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2421709	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421710	0.92[ASN][1000 genomes]
rs2421711	0.92[ASN][1000 genomes]
rs35152982	0.91[ASN][1000 genomes]
rs3738813	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3754494	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754495	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs3768569	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs3768570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480395	0.88[ASN][1000 genomes]
rs4916182	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916191	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916192	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916410	0.82[AMR][1000 genomes]
rs6425394	0.82[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425413	0.92[ASN][1000 genomes]
rs6657314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672029	0.90[ASN][1000 genomes]
rs6692260	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6692347	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs6699803	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6701076	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6703439	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7513485	0.92[ASN][1000 genomes]
rs7520777	0.89[ASN][1000 genomes]
rs7524635	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7525342	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7529080	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7531713	0.88[ASN][1000 genomes]
rs7531971	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7536822	0.92[ASN][1000 genomes]
rs7538013	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7545923	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553869	0.89[ASN][1000 genomes]
rs7887295	0.82[AMR][1000 genomes]
rs7887505	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7891433	0.82[AMR][1000 genomes]
rs926268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11806072	FMO2	cis	Artery Tibial	GTEx
rs11806072	FMO3	cis	cerebellum	SCAN
rs11806072	FMO2	cis	cerebellum	SCAN
rs11806072	FMO2	cis	parietal	SCAN
rs11806072	RP1-127D3.4	cis	Artery Tibial	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171153400-171159000	Active TSS	Aorta	Aorta
2	chr1:171154000-171159600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:171154200-171157400	Active TSS	Adipose Nuclei	Adipose
4	chr1:171154200-171158800	Active TSS	Psoas Muscle	Psoas
5	chr1:171154200-171159000	Active TSS	Left Ventricle	heart
6	chr1:171154200-171160800	Active TSS	Right Atrium	heart
7	chr1:171154600-171157200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:171154600-171157600	Weak transcription	Osteobl	bone
9	chr1:171154800-171157600	Weak transcription	Ovary	ovary
10	chr1:171155000-171157600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:171155000-171158000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:171155600-171157400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:171155800-171157200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:171156000-171158400	Enhancers	Fetal Lung	lung
15	chr1:171156400-171158000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:171156400-171165800	Weak transcription	Gastric	stomach
17	chr1:171156600-171157600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:171156600-171158600	Weak transcription	Lung	lung
19	chr1:171156600-171163800	Weak transcription	Small Intestine	intestine
20	chr1:171156600-171169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:171156600-171177200	Weak transcription	Esophagus	oesophagus
22	chr1:171156600-171179600	Weak transcription	NHLF	lung
23	chr1:171156800-171158200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:171156800-171179600	Weak transcription	Right Ventricle	heart

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