Variant report

Variant	rs451088
Chromosome Location	chr1:179222840-179222841
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:179222512-179222971	K562	blood:	n/a	n/a
2	RCOR1	chr1:179222808-179223075	K562	blood:	n/a	n/a
3	TEAD4	chr1:179222380-179223190	K562	blood:	n/a	n/a
4	SPI1	chr1:179222809-179222981	K562	blood:	n/a	n/a
5	GATA2	chr1:179222830-179223136	K562	blood:	n/a	n/a
6	NR2F2	chr1:179222697-179223047	K562	blood:	n/a	n/a
7	GATA2	chr1:179222795-179223170	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179217194..179219065-chr1:179221388..179223980,2	K562	blood:

Variant related genes	Relation type
COX5BP8	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1078872	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913690	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs10913692	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap]
rs10913695	0.89[EUR][1000 genomes]
rs10913697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs1173077	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes]
rs12130276	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs1325194	0.86[GIH][hapmap]
rs1325195	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1763022	0.91[ASN][1000 genomes]
rs1807916	0.85[ASN][1000 genomes]
rs1826183	0.85[ASN][1000 genomes]
rs1856967	0.88[EUR][1000 genomes]
rs1856968	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs1858551	0.89[EUR][1000 genomes]
rs2050923	0.92[ASN][1000 genomes]
rs2066279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2087559	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2130576	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2171958	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2171959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs2258217	0.90[EUR][1000 genomes]
rs2258221	0.88[EUR][1000 genomes]
rs2306941	0.86[ASN][1000 genomes]
rs2486995	0.89[EUR][1000 genomes]
rs2486997	0.89[EUR][1000 genomes]
rs2487563	0.89[ASN][1000 genomes]
rs2493124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs2636265	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636266	0.90[GIH][hapmap];0.80[TSI][hapmap]
rs2636272	0.86[ASN][1000 genomes]
rs2636274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes]
rs2636276	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs2636277	0.95[CHB][hapmap];0.98[CHD][hapmap]
rs2636280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2636281	0.98[EUR][1000 genomes]
rs2636282	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636287	0.96[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs2636290	0.90[GIH][hapmap]
rs2636293	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs2791940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2791941	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs2791942	0.80[EUR][1000 genomes]
rs2791943	0.91[EUR][1000 genomes]
rs2791944	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs2793790	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs2793793	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2793795	0.84[EUR][1000 genomes]
rs2793796	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs2793797	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs2793798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2793799	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs2793801	0.88[ASN][1000 genomes]
rs2793802	0.90[ASN][1000 genomes]
rs2793803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2793805	0.90[GIH][hapmap]
rs2793806	0.94[EUR][1000 genomes]
rs2793810	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2793812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2793813	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2793816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs2816166	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs2816167	0.98[EUR][1000 genomes]
rs2816168	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2816183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2816184	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs2816185	0.90[EUR][1000 genomes]
rs2816186	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes]
rs2816187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2816189	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2816190	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs2816193	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs2816196	0.90[EUR][1000 genomes]
rs2816197	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816198	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816200	0.82[ASN][1000 genomes]
rs2816201	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2816202	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2816204	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2816206	0.97[EUR][1000 genomes]
rs2816207	0.88[ASN][1000 genomes]
rs2816208	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2816209	1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs2816210	0.95[EUR][1000 genomes]
rs2816211	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2816212	0.86[ASN][1000 genomes]
rs2816213	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2816214	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2816218	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs3121198	0.81[ASN][1000 genomes]
rs3122376	0.83[ASN][1000 genomes]
rs3210839	0.96[CEU][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs36122838	0.87[EUR][1000 genomes]
rs377785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813642	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs3813643	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs3818433	0.90[GIH][hapmap]
rs3829794	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs411266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413613	0.92[ASN][1000 genomes]
rs434283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651012	0.87[EUR][1000 genomes]
rs4651013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs915337	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425839	0.88[ASN][1000 genomes]
rs965401	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9662858	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs9726961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs9727252	0.89[EUR][1000 genomes]
rs9728480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs9729199	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs451088	FAM20B	cis	parietal	SCAN
rs451088	IER5	cis	cerebellum	SCAN
rs451088	FAM20B	cis	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179218600-179225600	Weak transcription	Spleen	Spleen
2	chr1:179222400-179223000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:179222400-179223000	Enhancers	K562	blood
4	chr1:179222400-179223000	Enhancers	Osteobl	bone
5	chr1:179222400-179223600	Enhancers	NH-A	brain

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