Variant report

Variant	rs2007607
Chromosome Location	chr3:51895260-51895261
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	ATF1	chr3:51894914-51895263	K562	blood:	n/a	n/a
2	EBF1	chr3:51895021-51895561	GM12878	blood:	n/a	n/a
3	EBF1	chr3:51895042-51895631	GM12878	blood:	n/a	n/a
4	RUNX3	chr3:51895028-51895415	GM12878	blood:	n/a	n/a
5	TAL1	chr3:51894745-51895360	K562	blood:	n/a	n/a
6	MAX	chr3:51895074-51895399	NB4	blood:	n/a	chr3:51895269-51895279
7	RUNX3	chr3:51895060-51895383	GM12878	blood:	n/a	n/a
8	EBF1	chr3:51895013-51895795	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
IQCF2	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12639503	1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs1857800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983106	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28451928	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28481670	0.85[EUR][1000 genomes]
rs4280629	0.89[JPT][hapmap]
rs55804132	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55886133	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55894445	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56204016	0.85[EUR][1000 genomes]
rs56222927	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56285190	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56662100	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56998832	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57173447	0.82[EUR][1000 genomes]
rs57184058	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57269235	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57407585	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58800810	0.91[ASN][1000 genomes]
rs58929916	0.91[ASN][1000 genomes]
rs59215394	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59857460	0.88[ASN][1000 genomes]
rs60818362	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61015325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61257131	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6762083	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6762371	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs6763197	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6768073	0.81[EUR][1000 genomes]
rs6782139	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6786848	1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs6795223	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6795953	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6798175	0.85[EUR][1000 genomes]
rs6798914	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6802583	1.00[JPT][hapmap]
rs6805324	1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs6805941	0.85[EUR][1000 genomes]
rs6809548	0.81[EUR][1000 genomes]
rs73834762	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73834763	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73834764	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73834765	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73834766	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73838706	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73838710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73838711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73838905	0.87[ASN][1000 genomes]
rs7615151	0.89[JPT][hapmap]
rs7627992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7635409	0.89[JPT][hapmap]
rs7644969	0.86[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9826967	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9853511	1.00[JPT][hapmap]
rs9857964	0.81[EUR][1000 genomes]
rs986539	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[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]
rs9866552	1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs9869265	0.85[EUR][1000 genomes]
rs9874046	0.89[JPT][hapmap]
rs9874547	0.89[JPT][hapmap]
rs9875459	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv1001350	chr3:51860817-51899966	Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3412093	chr3:51895209-51895471	Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51894800-51895400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:51894800-51895800	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:51895000-51895800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:51895200-51895400	Enhancers	GM12878-XiMat	blood

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