Variant report

Variant	rs72743993
Chromosome Location	chr1:213079861-213079862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1047881	0.86[ASN][1000 genomes]
rs10746439	0.90[ASN][1000 genomes]
rs10779585	0.86[ASN][1000 genomes]
rs10779586	0.86[ASN][1000 genomes]
rs10779587	0.86[ASN][1000 genomes]
rs10779588	0.80[ASN][1000 genomes]
rs10779590	0.91[ASN][1000 genomes]
rs10779591	0.91[ASN][1000 genomes]
rs10779592	0.90[ASN][1000 genomes]
rs10779595	0.91[ASN][1000 genomes]
rs10864004	0.82[ASN][1000 genomes]
rs10864007	0.84[ASN][1000 genomes]
rs10864009	0.86[ASN][1000 genomes]
rs10864010	0.80[ASN][1000 genomes]
rs10864015	0.86[ASN][1000 genomes]
rs10864016	0.82[ASN][1000 genomes]
rs10864018	0.86[ASN][1000 genomes]
rs10864020	0.90[ASN][1000 genomes]
rs10864022	0.87[ASN][1000 genomes]
rs10902	0.94[ASN][1000 genomes]
rs11120047	0.86[ASN][1000 genomes]
rs11120049	0.80[ASN][1000 genomes]
rs11120050	0.81[ASN][1000 genomes]
rs11120053	0.90[ASN][1000 genomes]
rs11120054	0.90[ASN][1000 genomes]
rs11120055	0.90[ASN][1000 genomes]
rs11120056	0.91[ASN][1000 genomes]
rs11120057	0.91[ASN][1000 genomes]
rs11120059	0.90[ASN][1000 genomes]
rs11120060	0.91[ASN][1000 genomes]
rs11120064	0.99[ASN][1000 genomes]
rs11803450	0.85[ASN][1000 genomes]
rs11806446	0.82[ASN][1000 genomes]
rs11808574	0.91[ASN][1000 genomes]
rs12022540	0.85[ASN][1000 genomes]
rs12023052	0.80[ASN][1000 genomes]
rs12030572	0.87[ASN][1000 genomes]
rs12031546	0.92[ASN][1000 genomes]
rs12036698	0.92[ASN][1000 genomes]
rs12040103	0.92[ASN][1000 genomes]
rs12042181	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12043346	0.84[ASN][1000 genomes]
rs12043852	0.85[ASN][1000 genomes]
rs12048942	0.87[ASN][1000 genomes]
rs12069595	0.91[ASN][1000 genomes]
rs12118361	0.86[ASN][1000 genomes]
rs12122682	0.88[ASN][1000 genomes]
rs12123978	0.83[ASN][1000 genomes]
rs12125982	0.85[ASN][1000 genomes]
rs12565125	0.88[ASN][1000 genomes]
rs12566087	0.92[ASN][1000 genomes]
rs12567713	0.93[ASN][1000 genomes]
rs12567728	0.93[ASN][1000 genomes]
rs12731517	0.91[ASN][1000 genomes]
rs12735221	0.91[ASN][1000 genomes]
rs12744746	0.91[ASN][1000 genomes]
rs12756625	0.91[ASN][1000 genomes]
rs1284860	0.84[ASN][1000 genomes]
rs1472342	0.91[ASN][1000 genomes]
rs1587174	0.93[ASN][1000 genomes]
rs17019818	0.86[ASN][1000 genomes]
rs17019870	0.93[ASN][1000 genomes]
rs17019873	0.93[ASN][1000 genomes]
rs1874416	0.86[ASN][1000 genomes]
rs1874417	0.81[ASN][1000 genomes]
rs1874418	0.86[ASN][1000 genomes]
rs1874420	0.87[ASN][1000 genomes]
rs1890932	0.90[ASN][1000 genomes]
rs2047287	0.92[ASN][1000 genomes]
rs2132431	0.87[ASN][1000 genomes]
rs2172983	0.94[ASN][1000 genomes]
rs2185487	0.94[ASN][1000 genomes]
rs2201602	0.85[ASN][1000 genomes]
rs2201603	0.85[ASN][1000 genomes]
rs2220949	0.85[ASN][1000 genomes]
rs2279692	0.80[ASN][1000 genomes]
rs2291771	0.92[ASN][1000 genomes]
rs2291772	0.92[ASN][1000 genomes]
rs2291773	0.91[ASN][1000 genomes]
rs2497959	0.84[ASN][1000 genomes]
rs2644548	0.83[ASN][1000 genomes]
rs28529876	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768548	0.87[ASN][1000 genomes]
rs3768550	0.86[ASN][1000 genomes]
rs3816954	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41296726	0.89[ASN][1000 genomes]
rs41297446	0.90[ASN][1000 genomes]
rs41300993	0.92[ASN][1000 genomes]
rs41301027	0.93[ASN][1000 genomes]
rs4951465	0.89[ASN][1000 genomes]
rs4951466	0.92[ASN][1000 genomes]
rs4951470	0.93[ASN][1000 genomes]
rs4951472	0.94[ASN][1000 genomes]
rs4951644	0.83[ASN][1000 genomes]
rs4951645	0.89[ASN][1000 genomes]
rs4951646	0.88[ASN][1000 genomes]
rs4951647	0.92[ASN][1000 genomes]
rs4951653	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55793082	0.91[ASN][1000 genomes]
rs56129891	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56178110	0.92[ASN][1000 genomes]
rs6540769	0.85[ASN][1000 genomes]
rs6659996	0.90[ASN][1000 genomes]
rs6664909	0.86[ASN][1000 genomes]
rs6666167	0.85[ASN][1000 genomes]
rs6666356	0.91[ASN][1000 genomes]
rs6666368	0.91[ASN][1000 genomes]
rs6685877	0.83[ASN][1000 genomes]
rs6697428	0.86[ASN][1000 genomes]
rs6700342	0.86[ASN][1000 genomes]
rs6703156	0.83[ASN][1000 genomes]
rs72743967	0.92[ASN][1000 genomes]
rs72743981	0.93[ASN][1000 genomes]
rs72743991	0.98[ASN][1000 genomes]
rs7512393	0.85[ASN][1000 genomes]
rs7516718	0.91[ASN][1000 genomes]
rs7516817	0.90[ASN][1000 genomes]
rs7519166	0.91[ASN][1000 genomes]
rs7522693	0.91[ASN][1000 genomes]
rs7522877	0.91[ASN][1000 genomes]
rs7528505	0.83[ASN][1000 genomes]
rs7530561	0.93[ASN][1000 genomes]
rs7531073	0.91[ASN][1000 genomes]
rs7534973	0.91[ASN][1000 genomes]
rs7536716	0.91[ASN][1000 genomes]
rs7538797	0.88[ASN][1000 genomes]
rs7544198	0.87[ASN][1000 genomes]
rs7544567	0.84[ASN][1000 genomes]
rs7544645	0.84[ASN][1000 genomes]
rs963328	0.80[ASN][1000 genomes]
rs9787376	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs72743993	FLVCR1-AS1	cis	Esophagus Mucosa	GTEx
rs72743993	FLVCR1-AS1	cis	Whole Blood	GTEx
rs72743993	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs72743993	FLVCR1-AS1	cis	Adipose Subcutaneous	GTEx
rs72743993	FLVCR1-AS1	cis	lung	GTEx
rs72743993	FLVCR1-AS1	cis	Muscle Skeletal	GTEx
rs72743993	FLVCR1-AS1	cis	Artery Tibial	GTEx
rs72743993	FLVCR1-AS1	cis	Artery Aorta	GTEx
rs72743993	FLVCR1-AS1	cis	Heart Left Ventricle	GTEx
rs72743993	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
2	chr1:213076800-213083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:213078000-213080000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr1:213079000-213082600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:213079200-213080000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:213079200-213081400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:213079400-213080400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:213079400-213080600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:213079400-213081400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:213079600-213080600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:213079600-213080600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:213079600-213081200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
14	chr1:213079800-213080600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:213079800-213082400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:213079800-213082400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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