Variant report

Variant	rs2886918
Chromosome Location	chr4:74575517-74575518
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	chr4:74575116-74575621	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228277	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10025373	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10029200	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10938089	0.98[ASN][1000 genomes]
rs10938091	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11722921	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11938646	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1247605	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247607	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247608	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247611	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247620	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247633	0.98[ASN][1000 genomes]
rs1247634	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247635	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247639	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247687	0.95[ASN][1000 genomes]
rs1247689	0.97[ASN][1000 genomes]
rs12508451	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1261935	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12642878	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12643076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12643148	0.95[ASN][1000 genomes]
rs12646031	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12649614	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269764	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1269766	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1358594	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1406498	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528910	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528912	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1528913	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1729722	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1745246	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1951704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2091587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2141467	0.95[ASN][1000 genomes]
rs2141468	0.98[ASN][1000 genomes]
rs2178291	0.95[ASN][1000 genomes]
rs2367273	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3796679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4127802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4259030	0.96[ASN][1000 genomes]
rs4568212	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4637366	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4694633	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56785010	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61101665	0.95[ASN][1000 genomes]
rs6446950	0.89[ASN][1000 genomes]
rs6446951	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6446953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6446954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6818711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6836038	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6857472	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs720702	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72865497	0.95[ASN][1000 genomes]
rs72865502	0.95[ASN][1000 genomes]
rs7655660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7656501	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7656608	0.98[ASN][1000 genomes]
rs7657356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7657358	0.95[ASN][1000 genomes]
rs7660448	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs7660923	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7665606	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7678280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7678307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7681924	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7681932	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7682745	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7683759	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689702	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942051	0.95[ASN][1000 genomes]
rs9991585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74569200-74576400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr4:74569800-74576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:74570600-74578600	Enhancers	K562	blood
4	chr4:74570600-74581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:74572800-74575600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:74572800-74576000	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:74573200-74576200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:74574200-74575600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:74574200-74575600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:74574200-74576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:74574200-74578000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:74574400-74575600	Enhancers	Hela-S3	cervix
13	chr4:74574400-74575800	Enhancers	HUVEC	blood vessel
14	chr4:74574400-74576200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:74574400-74576200	Enhancers	NHEK	skin
16	chr4:74574400-74576400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr4:74574400-74577600	Weak transcription	Fetal Thymus	thymus
18	chr4:74574400-74577800	Weak transcription	Thymus	Thymus
19	chr4:74574400-74578200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:74574600-74577400	Weak transcription	Dnd41	blood
21	chr4:74574600-74583600	Weak transcription	NHDF-Ad	bronchial
22	chr4:74574600-74583800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:74574800-74579200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:74574800-74579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:74575400-74579200	Weak transcription	HMEC	breast

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