Variant report

Variant	rs11079762
Chromosome Location	chr17:45277358-45277359
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	SPI1	chr17:45277245-45277984	HL-60	blood:	n/a	chr17:45277582-45277595 chr17:45277586-45277593 chr17:45277583-45277596 chr17:45277559-45277566 chr17:45277585-45277594
2	SPI1	chr17:45277246-45277828	HL-60	blood:	n/a	chr17:45277582-45277595 chr17:45277586-45277593 chr17:45277583-45277596 chr17:45277559-45277566 chr17:45277585-45277594
3	SPI1	chr17:45277298-45277820	GM12891	blood:	n/a	chr17:45277582-45277595 chr17:45277586-45277593 chr17:45277583-45277596 chr17:45277559-45277566 chr17:45277585-45277594
4	SPI1	chr17:45277314-45277820	GM12891	blood:	n/a	chr17:45277582-45277595 chr17:45277586-45277593 chr17:45277583-45277596 chr17:45277559-45277566 chr17:45277585-45277594
5	SPI1	chr17:45277351-45277709	K562	blood:	n/a	chr17:45277582-45277595 chr17:45277586-45277593 chr17:45277583-45277596 chr17:45277559-45277566 chr17:45277585-45277594
6	SPI1	chr17:45276966-45278171	GM12878	blood:	n/a	chr17:45277582-45277595 chr17:45277586-45277593 chr17:45277583-45277596 chr17:45277559-45277566 chr17:45277585-45277594

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45276997..45278659-chr17:45285580..45287294,2	K562	blood:

Variant related genes	Relation type
MYL4	TF binding region
ENSG00000198336	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1102461	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11079763	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221596	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs221603	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs221604	0.81[AMR][1000 genomes]
rs221605	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs221607	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4968308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858671	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs858675	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9894365	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45266800-45277800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:45268400-45281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45270600-45281200	Weak transcription	Spleen	Spleen
4	chr17:45274800-45282200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:45276000-45277600	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:45276000-45281000	Weak transcription	HSMMtube	muscle
7	chr17:45276200-45280400	Weak transcription	Fetal Muscle Leg	muscle
8	chr17:45276400-45277400	Enhancers	Primary B cells from cord blood	blood
9	chr17:45276400-45281000	Weak transcription	HSMM	muscle
10	chr17:45276800-45277600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:45276800-45277600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr17:45276800-45278200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:45276800-45278200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr17:45276800-45278200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr17:45276800-45278200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:45276800-45278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:45277000-45277400	Enhancers	GM12878-XiMat	blood
18	chr17:45277000-45277600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr17:45277000-45277600	Enhancers	Primary hematopoietic stem cells	blood
20	chr17:45277000-45278200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr17:45277200-45277400	Enhancers	Primary T cells from cord blood	blood
22	chr17:45277200-45277400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr17:45277200-45277800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:45277200-45278200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr17:45277200-45278200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:45277200-45278200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:45277200-45278200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr17:45277200-45278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:45277200-45278200	Enhancers	Adipose Nuclei	Adipose
30	chr17:45277200-45278200	Enhancers	Duodenum Mucosa	Duodenum
31	chr17:45277200-45278200	Enhancers	Fetal Thymus	thymus
32	chr17:45277200-45278200	Enhancers	K562	blood
33	chr17:45277200-45278400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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