Variant report

Variant	rs613212
Chromosome Location	chr9:92786912-92786913
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	chr9:92786660-92787093	GM12891	blood:	n/a	n/a
2	SPI1	chr9:92786617-92787086	HL-60	blood:	n/a	n/a
3	SPI1	chr9:92786747-92786990	GM12878	blood:	n/a	n/a
4	SPI1	chr9:92786737-92787069	GM12878	blood:	n/a	n/a
5	BHLHE40	chr9:92786693-92787056	GM12878	blood:	n/a	n/a
6	SPI1	chr9:92786704-92786989	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:92218211..92220844-chr9:92785604..92787367,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-4	chr9:92786845-92788381	ENSG00000227555

Variant related genes	Relation type
MIR4290	TF binding region
ENSG00000130222	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10820832	0.82[AFR][1000 genomes]
rs1373102	0.81[AMR][1000 genomes]
rs1443358	0.82[AMR][1000 genomes]
rs1443360	0.87[AMR][1000 genomes]
rs35150414	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs501675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs535599	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs557789	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs601472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627985	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs628020	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs633926	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs636460	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs650415	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs650882	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs661232	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs666603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs679273	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs683669	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7018766	0.82[AMR][1000 genomes]
rs7036231	0.82[AMR][1000 genomes]
rs704476	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs816526	0.85[AMR][1000 genomes]
rs920752	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893561	chr9:92732368-92802101	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv482303	chr9:92752928-92890226	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv614852	chr9:92786722-93100550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92776800-92787200	Weak transcription	Esophagus	oesophagus
2	chr9:92781400-92790400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:92783000-92789000	Enhancers	Primary B cells from cord blood	blood
4	chr9:92783400-92787000	Enhancers	Primary B cells from peripheral blood	blood
5	chr9:92783400-92787800	Weak transcription	HSMMtube	muscle
6	chr9:92783600-92787200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:92784800-92788600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr9:92785000-92787200	Weak transcription	Gastric	stomach
9	chr9:92785400-92787600	Weak transcription	NHEK	skin
10	chr9:92786000-92787800	Enhancers	Duodenum Mucosa	Duodenum
11	chr9:92786000-92787800	Enhancers	GM12878-XiMat	blood
12	chr9:92786200-92787000	Weak transcription	Lung	lung
13	chr9:92786200-92788400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr9:92786600-92787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:92786600-92788200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:92786800-92787600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr9:92786800-92788000	Enhancers	Fetal Intestine Small	intestine
18	chr9:92786800-92788200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:92786800-92788400	Enhancers	Adipose Nuclei	Adipose

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