Variant report

Variant	rs73669739
Chromosome Location	chr8:20044322-20044323
allele	A/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	CEBPB	chr8:20044092-20044340	HepG2	liver:	n/a	chr8:20044194-20044205
2	FOS	chr8:20044252-20044954	HUVEC	blood vessel:	n/a	chr8:20044693-20044704 chr8:20044695-20044703
3	SPI1	chr8:20043854-20044409	HL-60	blood:	n/a	n/a
4	CEBPB	chr8:20044035-20044840	IMR90	lung:	n/a	chr8:20044194-20044205 chr8:20044634-20044645
5	CEBPB	chr8:20044024-20044330	A549	lung:	n/a	chr8:20044194-20044205
6	CEBPB	chr8:20044049-20044361	K562	blood:	n/a	chr8:20044194-20044205
7	SPI1	chr8:20043906-20044350	HL-60	blood:	n/a	n/a
8	FOS	chr8:20043874-20044945	MCF10A-Er-Src	breast:	n/a	chr8:20044693-20044704 chr8:20044695-20044703
9	STAT3	chr8:20043923-20044989	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr8:20043876-20045002	MCF10A-Er-Src	breast:	n/a	chr8:20044693-20044704 chr8:20044695-20044703
11	EP300	chr8:20044148-20045254	SK-N-SH	brain:	n/a	n/a
12	STAT3	chr8:20043967-20044835	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr8:20043948-20044835	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20042503..20044673-chr8:20052307..20056909,5	K562	blood:

Variant related genes	Relation type
SLC18A1	TF binding region
ENSG00000147416	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10102445	1.00[EUR][1000 genomes]
rs10108611	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10283363	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17092136	1.00[AMR][1000 genomes]
rs28393220	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28520251	0.80[ASN][1000 genomes]
rs28577098	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28609982	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3757961	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56175051	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59372740	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60237642	1.00[AMR][1000 genomes]
rs7009166	1.00[AMR][1000 genomes]
rs7009177	1.00[AMR][1000 genomes]
rs7010744	1.00[AMR][1000 genomes]
rs73669731	0.81[ASN][1000 genomes]
rs73669732	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73669733	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73669734	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73669735	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs952860	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20040800-20048400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:20041000-20044600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:20041200-20044400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:20041200-20044400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:20041200-20044400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:20041400-20044400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:20042200-20051800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:20042400-20044400	Weak transcription	Fetal Intestine Small	intestine
9	chr8:20042600-20044400	Weak transcription	NH-A	brain
10	chr8:20043600-20047600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:20043600-20047800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:20043800-20044800	Enhancers	Primary B cells from cord blood	blood
13	chr8:20043800-20044800	Weak transcription	Lung	lung
14	chr8:20043800-20045000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:20043800-20047400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:20043800-20047400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:20044000-20044400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:20044000-20045000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:20044000-20045000	Enhancers	Fetal Intestine Large	intestine
20	chr8:20044000-20045000	Enhancers	HSMM	muscle
21	chr8:20044000-20045200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:20044000-20045200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:20044000-20045200	Enhancers	Dnd41	blood
24	chr8:20044000-20045800	Enhancers	HUVEC	blood vessel
25	chr8:20044200-20044600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:20044200-20045000	Enhancers	Hela-S3	cervix
27	chr8:20044200-20045200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr8:20044200-20045200	Enhancers	HMEC	breast
29	chr8:20044200-20045200	Enhancers	NHEK	skin
30	chr8:20044200-20045800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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