Variant report

Variant	rs10864007
Chromosome Location	chr1:213020221-213020222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213019184..213021421-chr1:213029036..213031526,2	K562	blood:

Variant related genes	Relation type
ENSG00000198468	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1047881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10746439	0.92[ASN][1000 genomes]
rs10779585	0.98[ASN][1000 genomes]
rs10779586	0.98[ASN][1000 genomes]
rs10779587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10779588	0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs10779589	0.84[ASN][1000 genomes]
rs10779590	0.93[ASN][1000 genomes]
rs10779591	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs10779592	0.92[ASN][1000 genomes]
rs10779595	0.93[ASN][1000 genomes]
rs10864004	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10864009	0.98[ASN][1000 genomes]
rs10864010	0.93[ASN][1000 genomes]
rs10864015	0.98[ASN][1000 genomes]
rs10864016	0.93[ASN][1000 genomes]
rs10864018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10864020	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs10864022	0.89[ASN][1000 genomes]
rs10902	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs11120042	0.86[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs11120043	0.90[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs11120047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11120049	0.93[ASN][1000 genomes]
rs11120050	0.93[ASN][1000 genomes]
rs11120053	0.94[ASN][1000 genomes]
rs11120054	0.92[ASN][1000 genomes]
rs11120055	0.91[ASN][1000 genomes]
rs11120056	0.93[ASN][1000 genomes]
rs11120057	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs11120059	0.92[ASN][1000 genomes]
rs11120060	0.93[ASN][1000 genomes]
rs11120064	0.86[ASN][1000 genomes]
rs11803450	0.88[ASN][1000 genomes]
rs11806446	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11808574	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs12022540	0.99[ASN][1000 genomes]
rs12023052	0.86[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs12030572	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12031546	0.92[ASN][1000 genomes]
rs12036698	0.92[ASN][1000 genomes]
rs12040103	0.92[ASN][1000 genomes]
rs12042181	0.85[CHB][hapmap]
rs12043346	0.98[ASN][1000 genomes]
rs12043852	0.88[ASN][1000 genomes]
rs12048942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12069595	0.93[ASN][1000 genomes]
rs12118361	0.98[ASN][1000 genomes]
rs12122682	0.92[ASN][1000 genomes]
rs12123978	0.89[ASN][1000 genomes]
rs12125982	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs12136117	0.81[ASN][1000 genomes]
rs12140831	0.86[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs12565125	0.85[ASN][1000 genomes]
rs12566087	0.92[ASN][1000 genomes]
rs12567713	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs12567728	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs12731517	0.93[ASN][1000 genomes]
rs12735221	0.93[ASN][1000 genomes]
rs12744746	0.93[ASN][1000 genomes]
rs12756625	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1284860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472342	0.93[ASN][1000 genomes]
rs1587174	0.91[ASN][1000 genomes]
rs17019818	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17019870	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs17019873	0.91[ASN][1000 genomes]
rs1874416	0.98[ASN][1000 genomes]
rs1874417	0.92[ASN][1000 genomes]
rs1874418	0.98[ASN][1000 genomes]
rs1874420	0.83[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1890932	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2047287	0.92[ASN][1000 genomes]
rs2132431	0.97[ASN][1000 genomes]
rs2172983	0.90[ASN][1000 genomes]
rs2185487	0.90[ASN][1000 genomes]
rs2201602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2201603	0.96[ASN][1000 genomes]
rs2220949	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2279692	0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs2291771	0.92[ASN][1000 genomes]
rs2291772	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2291773	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2497959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768548	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3768550	0.98[ASN][1000 genomes]
rs3768551	0.90[ASN][1000 genomes]
rs41296726	0.92[ASN][1000 genomes]
rs41297446	0.94[ASN][1000 genomes]
rs41300993	0.92[ASN][1000 genomes]
rs41301027	0.91[ASN][1000 genomes]
rs4951465	0.94[ASN][1000 genomes]
rs4951466	0.92[ASN][1000 genomes]
rs4951470	0.94[CHB][hapmap];0.91[ASN][1000 genomes]
rs4951472	0.90[ASN][1000 genomes]
rs4951644	0.88[ASN][1000 genomes]
rs4951645	0.94[ASN][1000 genomes]
rs4951646	0.93[ASN][1000 genomes]
rs4951647	0.92[ASN][1000 genomes]
rs4951653	0.80[ASN][1000 genomes]
rs55793082	0.89[ASN][1000 genomes]
rs56178110	0.92[ASN][1000 genomes]
rs6540769	0.84[CHB][hapmap];0.88[ASN][1000 genomes]
rs6657416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6659996	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6664909	0.97[ASN][1000 genomes]
rs6666167	0.88[ASN][1000 genomes]
rs6666356	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs6666368	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs6685877	0.88[ASN][1000 genomes]
rs6697428	0.98[ASN][1000 genomes]
rs6700342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6703156	0.89[ASN][1000 genomes]
rs72743967	0.92[ASN][1000 genomes]
rs72743981	0.91[ASN][1000 genomes]
rs72743991	0.86[ASN][1000 genomes]
rs72743993	0.84[ASN][1000 genomes]
rs7512393	0.88[ASN][1000 genomes]
rs7516718	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7516817	0.92[ASN][1000 genomes]
rs7519166	0.93[ASN][1000 genomes]
rs7522693	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7522877	0.93[ASN][1000 genomes]
rs7524203	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7528505	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs7530561	0.91[ASN][1000 genomes]
rs7531073	0.93[ASN][1000 genomes]
rs7534973	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7536716	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7538797	0.90[ASN][1000 genomes]
rs7544198	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7544567	1.00[ASN][1000 genomes]
rs7544645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs963328	0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs9787376	0.98[ASN][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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10864007	FLVCR1-AS1	cis	lung	GTEx
rs10864007	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL
rs10864007	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx
rs10864007	FLVCR	cis	multi-tissue	Pritchard
rs10864007	FLVCR1-AS1	cis	Whole Blood	GTEx
rs10864007	FLVCR1-AS1	cis	Thyroid	GTEx
rs10864007	NSL1	Cis_1M	lymphoblastoid	RTeQTL
rs10864007	FLVCR1-AS1	cis	Adipose Subcutaneous	GTEx
rs10864007	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs10864007	FLVCR1-AS1	cis	Heart Left Ventricle	GTEx
rs10864007	FLVCR1-AS1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213020200-213020400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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