Variant report

Variant	rs11574632
Chromosome Location	chr16:31364053-31364054
allele	C/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	chr16:31363180-31364269	HL-60	blood:	n/a	n/a
2	MYC	chr16:31363803-31364087	NB4	blood:	n/a	n/a
3	SPI1	chr16:31363674-31364168	GM12891	blood:	n/a	chr16:31363943-31363956 chr16:31363911-31363920 chr16:31363944-31363953 chr16:31363909-31363922 chr16:31363945-31363952 chr16:31363942-31363955
4	ELF1	chr16:31363561-31364535	GM12878	blood:	n/a	chr16:31363695-31363707 chr16:31364353-31364365 chr16:31364157-31364169 chr16:31363944-31363955
5	MTA3	chr16:31362555-31364103	GM12878	blood:	n/a	n/a
6	SPI1	chr16:31363282-31364268	HL-60	blood:	n/a	chr16:31363943-31363956 chr16:31363911-31363920 chr16:31363944-31363953 chr16:31363613-31363620 chr16:31363909-31363922 chr16:31363945-31363952 chr16:31363942-31363955
7	NFIC	chr16:31362620-31364115	GM12878	blood:	n/a	n/a
8	SPI1	chr16:31363444-31364097	GM12878	blood:	n/a	chr16:31363943-31363956 chr16:31363911-31363920 chr16:31363944-31363953 chr16:31363613-31363620 chr16:31363909-31363922 chr16:31363945-31363952 chr16:31363942-31363955
9	SPI1	chr16:31363758-31364060	K562	blood:	n/a	chr16:31363943-31363956 chr16:31363911-31363920 chr16:31363944-31363953 chr16:31363909-31363922 chr16:31363945-31363952 chr16:31363942-31363955
10	RUNX3	chr16:31363450-31364076	GM12878	blood:	n/a	n/a
11	SPI1	chr16:31363632-31364203	HL-60	blood:	n/a	chr16:31363943-31363956 chr16:31363911-31363920 chr16:31363944-31363953 chr16:31363909-31363922 chr16:31363945-31363952 chr16:31363942-31363955
12	POLR2A	chr16:31363049-31364141	GM12892	blood:	n/a	n/a
13	SPI1	chr16:31363685-31364126	GM12891	blood:	n/a	chr16:31363943-31363956 chr16:31363911-31363920 chr16:31363944-31363953 chr16:31363909-31363922 chr16:31363945-31363952 chr16:31363942-31363955
14	EBF1	chr16:31363751-31364056	GM12878	blood:	n/a	n/a
15	MAX	chr16:31363448-31364093	NB4	blood:	n/a	n/a
16	SPI1	chr16:31362657-31364318	GM12878	blood:	n/a	chr16:31362940-31362947 chr16:31363943-31363956 chr16:31363911-31363920 chr16:31364298-31364311 chr16:31363944-31363953 chr16:31363613-31363620 chr16:31363909-31363922 chr16:31363945-31363952 chr16:31363942-31363955 chr16:31362936-31362949

Variant related genes	Relation type
ITGAX	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11574635	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11863903	0.93[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12920910	1.00[ASN][1000 genomes]
rs13336235	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230428	1.00[AMR][1000 genomes]
rs41370044	1.00[ASN][1000 genomes]
rs58200984	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58352473	1.00[ASN][1000 genomes]
rs58656594	1.00[ASN][1000 genomes]
rs58827327	1.00[ASN][1000 genomes]
rs62051462	1.00[ASN][1000 genomes]
rs62051470	1.00[ASN][1000 genomes]
rs62051472	1.00[ASN][1000 genomes]
rs62051481	1.00[ASN][1000 genomes]
rs62051523	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054769	1.00[ASN][1000 genomes]
rs72791981	1.00[ASN][1000 genomes]
rs8060163	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31355600-31365600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:31358600-31366400	Enhancers	Primary B cells from peripheral blood	blood
4	chr16:31358800-31366000	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:31359000-31365600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:31361200-31368000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr16:31362800-31364800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr16:31363200-31364400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr16:31363200-31364800	Enhancers	Fetal Muscle Trunk	muscle
10	chr16:31363400-31364200	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:31363600-31364800	Enhancers	Spleen	Spleen
12	chr16:31363600-31365000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr16:31363600-31366000	Weak transcription	A549	lung
14	chr16:31363800-31364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:31363800-31364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:31363800-31365600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:31363800-31365600	Enhancers	GM12878-XiMat	blood
18	chr16:31363800-31365800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:31363800-31366000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr16:31363800-31368200	Weak transcription	Fetal Muscle Leg	muscle
21	chr16:31364000-31364200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:31364000-31364200	Enhancers	Fetal Thymus	thymus
23	chr16:31364000-31364400	Bivalent Enhancer	Placenta	Placenta
24	chr16:31364000-31364600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:31364000-31364600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr16:31364000-31364800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:31364000-31365600	Enhancers	Primary B cells from cord blood	blood

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