Variant report

Variant	rs11574630
Chromosome Location	chr16:31363788-31363789
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	RFX5	chr16:31363609-31363895	GM12878	blood:	n/a	n/a
3	EP300	chr16:31362760-31364050	GM12878	blood:	n/a	chr16:31363039-31363053 chr16:31363907-31363921 chr16:31363095-31363109 chr16:31363944-31363953 chr16:31362909-31362923
4	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
5	ELF1	chr16:31363561-31364535	GM12878	blood:	n/a	chr16:31363695-31363707 chr16:31364353-31364365 chr16:31364157-31364169 chr16:31363944-31363955
6	SPI1	chr16:31363782-31364040	K562	blood:	n/a	chr16:31363943-31363956 chr16:31363911-31363920 chr16:31363944-31363953 chr16:31363909-31363922 chr16:31363945-31363952 chr16:31363942-31363955
7	TBL1XR1	chr16:31362803-31363946	GM12878	blood:	n/a	n/a
8	MTA3	chr16:31362555-31364103	GM12878	blood:	n/a	n/a
9	STAT3	chr16:31363602-31363937	GM12878	blood:	n/a	chr16:31363808-31363820
10	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
11	RUNX3	chr16:31363694-31364032	GM12878	blood:	n/a	n/a
12	NFIC	chr16:31362620-31364115	GM12878	blood:	n/a	n/a
13	PML	chr16:31362618-31363884	GM12878	blood:	n/a	n/a
14	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
15	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
16	RUNX3	chr16:31363450-31364076	GM12878	blood:	n/a	n/a
17	RCOR1	chr16:31363740-31363897	GM12878	blood:	n/a	n/a
18	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
19	POLR2A	chr16:31363049-31364141	GM12892	blood:	n/a	n/a
20	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
21	EBF1	chr16:31363751-31364056	GM12878	blood:	n/a	n/a
22	EBF1	chr16:31363684-31363993	GM12878	blood:	n/a	n/a
23	MAX	chr16:31363744-31364025	GM12878	blood:	n/a	n/a
24	BHLHE40	chr16:31363583-31363831	GM12878	blood:	n/a	n/a
25	MAX	chr16:31363448-31364093	NB4	blood:	n/a	n/a
26	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: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10747210	0.98[ASN][1000 genomes]
rs10782004	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106398	0.87[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11150610	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs11150611	0.97[ASN][1000 genomes]
rs11150612	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11150613	0.93[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11150614	0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11150616	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11150617	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11150619	0.92[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1143682	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11574631	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11574639	0.82[ASN][1000 genomes]
rs11641202	0.84[ASN][1000 genomes]
rs11642120	0.84[ASN][1000 genomes]
rs11645917	0.97[ASN][1000 genomes]
rs11859274	0.97[ASN][1000 genomes]
rs11863627	0.84[ASN][1000 genomes]
rs12444713	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12597154	0.87[ASN][1000 genomes]
rs12600286	0.94[ASN][1000 genomes]
rs12923297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12935192	0.97[ASN][1000 genomes]
rs13332545	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs13338928	0.87[ASN][1000 genomes]
rs2230429	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2359661	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs28372932	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3087796	0.92[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs36100148	0.89[ASN][1000 genomes]
rs3815801	0.81[CHB][hapmap]
rs3925074	0.92[ASN][1000 genomes]
rs3925075	0.92[ASN][1000 genomes]
rs4075052	0.92[ASN][1000 genomes]
rs4077810	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs41440449	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4261553	0.92[ASN][1000 genomes]
rs4359460	0.92[ASN][1000 genomes]
rs4411512	0.92[ASN][1000 genomes]
rs4448960	0.92[ASN][1000 genomes]
rs4450409	0.84[ASN][1000 genomes]
rs4459557	0.93[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4493054	0.98[ASN][1000 genomes]
rs4506917	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4594268	0.84[ASN][1000 genomes]
rs4597342	0.93[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs4608351	0.92[ASN][1000 genomes]
rs4889543	0.88[ASN][1000 genomes]
rs4889647	0.85[ASN][1000 genomes]
rs4889649	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55742763	0.88[ASN][1000 genomes]
rs55912556	0.83[ASN][1000 genomes]
rs56392848	0.97[ASN][1000 genomes]
rs57202326	0.84[ASN][1000 genomes]
rs59338016	0.88[ASN][1000 genomes]
rs61194152	0.93[ASN][1000 genomes]
rs62051517	0.89[ASN][1000 genomes]
rs7190997	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs7192161	0.85[ASN][1000 genomes]
rs7192375	0.87[ASN][1000 genomes]
rs7195915	0.89[ASN][1000 genomes]
rs7195945	0.89[ASN][1000 genomes]
rs7206295	0.93[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7499192	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7501207	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8048583	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs8052324	0.85[ASN][1000 genomes]
rs8058882	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8060268	0.93[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs8062159	0.85[ASN][1000 genomes]
rs9673398	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9673404	0.91[ASN][1000 genomes]
rs9673405	0.92[ASN][1000 genomes]
rs9673519	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9673522	0.92[ASN][1000 genomes]
rs9674009	0.92[ASN][1000 genomes]
rs9888907	0.92[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:24 , 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	chr16:31362800-31363800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr16:31362800-31363800	Flanking Active TSS	GM12878-XiMat	blood
9	chr16:31362800-31364800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr16:31363200-31363800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
11	chr16:31363200-31364400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr16:31363200-31364800	Enhancers	Fetal Muscle Trunk	muscle
13	chr16:31363400-31363800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr16:31363400-31363800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:31363400-31363800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:31363400-31364200	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:31363600-31363800	Enhancers	Primary B cells from cord blood	blood
18	chr16:31363600-31363800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr16:31363600-31363800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:31363600-31363800	Enhancers	Fetal Muscle Leg	muscle
21	chr16:31363600-31364000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:31363600-31364800	Enhancers	Spleen	Spleen
23	chr16:31363600-31365000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr16:31363600-31366000	Weak transcription	A549	lung

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