Variant report

Variant	rs7624999
Chromosome Location	chr3:97952432-97952433
allele	G/T
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	POLR2A	chr3:97952376-97952664	GM12892	blood:	n/a	n/a
2	CTCF	chr3:97952380-97952530	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:97952188-97952785	GM12878	blood:	n/a	n/a
4	CUX1	chr3:97952186-97952580	GM12878	blood:	n/a	n/a
5	SPI1	chr3:97952257-97952628	GM12878	blood:	n/a	n/a
6	YY1	chr3:97952385-97952666	GM12878	blood:	n/a	n/a
7	IKZF1	chr3:97952407-97952731	GM12878	blood:	n/a	n/a
8	BHLHE40	chr3:97951405-97952685	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:97952323-97952758	GM12878	blood:	n/a	n/a
10	TAF1	chr3:97952410-97952626	GM12878	blood:	n/a	n/a
11	YY1	chr3:97952321-97952648	GM12878	blood:	n/a	n/a
12	EBF1	chr3:97952207-97952623	GM12878	blood:	n/a	n/a
13	RUNX3	chr3:97952224-97952652	GM12878	blood:	n/a	n/a
14	CHD2	chr3:97952077-97952654	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:97952342-97952835	GM12878	blood:	n/a	n/a
16	CTCF	chr3:97952320-97952470	GM12872	blood:	n/a	n/a
17	TBP	chr3:97952273-97952678	GM12878	blood:	n/a	n/a
18	CTCF	chr3:97952360-97952510	GM12873	blood:	n/a	n/a
19	CTCF	chr3:97952400-97952550	GM12868	blood:	n/a	n/a
20	RELA	chr3:97952226-97952653	GM12878	blood:	n/a	n/a
21	RXRA	chr3:97952406-97952553	GM12878	blood:	n/a	n/a
22	CTCF	chr3:97952340-97952490	GM12873	blood:	n/a	n/a
23	BATF	chr3:97952380-97952574	GM12878	blood:	n/a	n/a
24	CTCF	chr3:97952340-97952490	GM06990	blood:	n/a	n/a
25	MXI1	chr3:97952265-97952626	GM12878	blood:	n/a	n/a
26	ZNF384	chr3:97950860-97952665	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:97952266-97952684	GM12892	blood:	n/a	n/a
28	WRNIP1	chr3:97952353-97952618	GM12878	blood:	n/a	n/a
29	RUNX3	chr3:97952282-97952645	GM12878	blood:	n/a	n/a
30	EBF1	chr3:97952104-97952725	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:97952279-97953057	GM12878	blood:	n/a	n/a
32	BCL11A	chr3:97952351-97952515	GM12878	blood:	n/a	n/a
33	SPI1	chr3:97952218-97952666	HL-60	blood:	n/a	n/a
34	POU2F2	chr3:97952205-97952649	GM12878	blood:	n/a	chr3:97952222-97952236 chr3:97952221-97952236 chr3:97952224-97952234
35	EP300	chr3:97952127-97952625	GM12878	blood:	n/a	n/a
36	EBF1	chr3:97952295-97952631	GM12878	blood:	n/a	n/a
37	SPI1	chr3:97952234-97952750	GM12878	blood:	n/a	n/a
38	PAX5	chr3:97952314-97952593	GM12878	blood:	n/a	n/a
39	MAX	chr3:97952237-97952646	GM12878	blood:	n/a	n/a
40	MYC	chr3:97952344-97952556	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
OR5H7P	TF binding region
ENSG00000251088	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1497536	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1497543	1.00[EUR][1000 genomes]
rs35724172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56274587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57153638	1.00[EUR][1000 genomes]
rs57263843	1.00[EUR][1000 genomes]
rs57431594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57870129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58044901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58224654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59111149	1.00[EUR][1000 genomes]
rs59576981	1.00[EUR][1000 genomes]
rs60039150	1.00[EUR][1000 genomes]
rs60110583	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61483585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61583728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775472	1.00[EUR][1000 genomes]
rs6779299	1.00[EUR][1000 genomes]
rs6792579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72931064	1.00[EUR][1000 genomes]
rs72931068	1.00[EUR][1000 genomes]
rs72931070	1.00[EUR][1000 genomes]
rs72931073	1.00[EUR][1000 genomes]
rs72931074	1.00[EUR][1000 genomes]
rs72931078	1.00[EUR][1000 genomes]
rs72931079	1.00[EUR][1000 genomes]
rs72931081	1.00[EUR][1000 genomes]
rs72931088	1.00[EUR][1000 genomes]
rs72931090	1.00[EUR][1000 genomes]
rs72931092	1.00[EUR][1000 genomes]
rs72932841	1.00[EUR][1000 genomes]
rs73853773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73855904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7609946	1.00[EUR][1000 genomes]
rs7615266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7620005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7621627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7625339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7632822	1.00[EUR][1000 genomes]
rs7652703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869347	chr3:97742604-98051633	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv877209	chr3:97806616-98049409	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv963576	chr3:97825434-98041343	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1004820	chr3:97852875-98169488	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv834773	chr3:97855362-98043888	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1000834	chr3:97859880-98095473	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv877210	chr3:97866177-97992964	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv432462	chr3:97918267-98001710	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv877211	chr3:97919363-97958280	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv591063	chr3:97924688-97958280	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv591064	chr3:97931105-97958280	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv877212	chr3:97931105-98033400	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv1842860	chr3:97934241-98075543	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1004762	chr3:97935701-98000227	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1008569	chr3:97937168-97983117	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1009918	chr3:97946030-98155450	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:97951200-97952800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:97951600-97952800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:97952200-97952600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr3:97952200-97952600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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