Variant report

Variant	rs2219608
Chromosome Location	chr12:74929413-74929414
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	SPI1	chr12:74929369-74929719	HL-60	blood:	n/a	n/a
2	SPI1	chr12:74929381-74929600	K562	blood:	n/a	n/a
3	ZBTB33	chr12:74929249-74929627	GM12878	blood:	n/a	n/a
4	SPI1	chr12:74929320-74929710	GM12891	blood:	n/a	n/a
5	CHD2	chr12:74929324-74929635	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:74929388-74929688	GM12891	blood:	n/a	n/a
7	SPI1	chr12:74929288-74929724	GM12891	blood:	n/a	n/a
8	TAF1	chr12:74929376-74929633	GM12892	blood:	n/a	n/a
9	SPI1	chr12:74929174-74929840	GM12878	blood:	n/a	n/a
10	IRF4	chr12:74929356-74929677	GM12878	blood:	n/a	n/a
11	REST	chr12:74929302-74929761	HL-60	blood:	n/a	n/a
12	SPI1	chr12:74929389-74929580	K562	blood:	n/a	n/a
13	CHD2	chr12:74929395-74929544	K562	blood:	n/a	n/a
14	ZBTB33	chr12:74929315-74929663	GM12878	blood:	n/a	n/a
15	CHD2	chr12:74929332-74929617	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:74929360-74929709	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:74929411-74929651	GM12891	blood:	n/a	n/a
18	SPI1	chr12:74929291-74929767	HL-60	blood:	n/a	n/a
19	POLR2A	chr12:74929277-74929828	GM12892	blood:	n/a	n/a
20	SPI1	chr12:74929385-74929602	GM12878	blood:	n/a	n/a
21	BHLHE40	chr12:74929246-74929640	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:74929359-74929744	GM12892	blood:	n/a	n/a
23	TBP	chr12:74929318-74929633	GM12878	blood:	n/a	n/a
24	YY1	chr12:74929387-74929680	GM12878	blood:	n/a	n/a
25	SPI1	chr12:74929302-74929682	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:74929385-74929821	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ATXN7L3B	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1037887	1.00[AFR][1000 genomes]
rs1389486	0.83[AFR][1000 genomes]
rs1389487	0.83[AFR][1000 genomes]
rs1389489	1.00[AFR][1000 genomes]
rs1389490	1.00[AFR][1000 genomes]
rs1389491	1.00[AFR][1000 genomes]
rs1493798	1.00[AFR][1000 genomes]
rs1493804	1.00[AFR][1000 genomes]
rs1493807	1.00[AFR][1000 genomes]
rs1563930	1.00[AFR][1000 genomes]
rs1870699	1.00[AFR][1000 genomes]
rs1873987	1.00[AFR][1000 genomes]
rs1873988	1.00[AFR][1000 genomes]
rs2007674	1.00[AFR][1000 genomes]
rs2029717	1.00[AFR][1000 genomes]
rs2249335	0.83[AFR][1000 genomes]
rs2252250	1.00[AFR][1000 genomes]
rs2605360	1.00[AFR][1000 genomes]
rs2605379	1.00[AFR][1000 genomes]
rs2605380	1.00[AFR][1000 genomes]
rs2613880	1.00[AFR][1000 genomes]
rs2613892	1.00[AFR][1000 genomes]
rs2613896	1.00[AFR][1000 genomes]
rs2613899	1.00[AFR][1000 genomes]
rs2641465	1.00[AFR][1000 genomes]
rs2925223	1.00[AFR][1000 genomes]
rs2925224	1.00[AFR][1000 genomes]
rs2926807	1.00[AFR][1000 genomes]
rs588875	1.00[AFR][1000 genomes]
rs590166	1.00[AFR][1000 genomes]
rs596999	1.00[AFR][1000 genomes]
rs625531	1.00[AFR][1000 genomes]
rs663854	1.00[AFR][1000 genomes]
rs694314	1.00[AFR][1000 genomes]
rs922222	0.83[AFR][1000 genomes]
rs970236	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv559414	chr12:74850206-74931349	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv559417	chr12:74857957-74931349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
8	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription 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 miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74929400-74929800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr12:74929400-74930000	ZNF genes & repeats	GM12878-XiMat	blood

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