Variant report

Variant	rs1862968
Chromosome Location	chr2:31254348-31254349
allele	A/G
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	RUNX3	chr2:31254236-31254549	GM12878	blood:	n/a	n/a
2	SPI1	chr2:31254244-31254597	GM12878	blood:	n/a	chr2:31254444-31254451 chr2:31254441-31254454
3	BATF	chr2:31254145-31254563	GM12878	blood:	n/a	chr2:31254325-31254336
4	POU2F2	chr2:31254120-31254637	GM12878	blood:	n/a	chr2:31254369-31254383 chr2:31254372-31254381 chr2:31254372-31254382 chr2:31254365-31254387 chr2:31254373-31254380
5	RUNX3	chr2:31254206-31254548	GM12878	blood:	n/a	n/a
6	EP300	chr2:31254100-31254546	GM12878	blood:	n/a	n/a
7	BATF	chr2:31254166-31254507	GM12878	blood:	n/a	chr2:31254325-31254336
8	EBF1	chr2:31253933-31254430	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:31254168-31254527	GM12878	blood:	n/a	n/a
10	NFYB	chr2:31254215-31254464	GM12878	blood:	n/a	n/a
11	PAX5	chr2:31254032-31254514	GM12878	blood:	n/a	chr2:31254442-31254451
12	BHLHE40	chr2:31253935-31254480	GM12878	blood:	n/a	n/a
13	IRF4	chr2:31254159-31254593	GM12878	blood:	n/a	n/a
14	PAX5	chr2:31254008-31254355	GM12878	blood:	n/a	n/a
15	IKZF1	chr2:31254172-31254550	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31247169..31249491-chr2:31252132..31255050,2	K562	blood:
2	chr2:31251926..31254609-chr2:31255739..31258107,3	K562	blood:

Variant related genes	Relation type
ENSG00000216093	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10164479	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10166921	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10174368	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10192472	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10197865	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10206704	0.88[CEU][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10209881	0.94[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10210092	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10210124	0.96[CEU][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210300	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10865086	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12473730	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12613732	0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs12621546	0.81[ASW][hapmap];0.80[YRI][hapmap]
rs12712300	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1862964	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1862965	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1862966	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862967	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113487	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2113488	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2161835	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194454	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194455	0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2194456	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194457	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2216827	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2365191	0.96[ASN][1000 genomes]
rs4245766	0.95[JPT][hapmap]
rs4951959	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4951960	0.81[ASW][hapmap];0.80[GIH][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes]
rs4952027	0.88[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952028	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952030	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952031	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4952032	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4952033	0.87[ASN][1000 genomes]
rs4952038	0.83[ASN][1000 genomes]
rs5009910	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56284247	0.84[ASN][1000 genomes]
rs62140629	0.80[ASN][1000 genomes]
rs6543594	0.88[CEU][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6543595	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6708989	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6752071	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6752303	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6752662	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7558425	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7565923	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7579017	0.85[CEU][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7582401	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592553	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7601904	0.88[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7605643	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7605982	0.84[AMR][1000 genomes]
rs7608731	0.96[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9308914	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9679162	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31246400-31261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:31251400-31270000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:31253400-31254400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:31254000-31255200	Enhancers	GM12878-XiMat	blood
5	chr2:31254200-31256200	Enhancers	Primary B cells from cord blood	blood

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