Variant report

Variant	rs12769902
Chromosome Location	chr10:49664589-49664590
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	TEAD4	chr10:49664348-49665077	K562	blood:	n/a	n/a
2	BHLHE40	chr10:49664494-49664862	K562	blood:	n/a	n/a
3	MAX	chr10:49664400-49664844	K562	blood:	n/a	n/a
4	MAX	chr10:49664454-49665045	K562	blood:	n/a	n/a
5	RCOR1	chr10:49664488-49665020	K562	blood:	n/a	n/a
6	SPI1	chr10:49664418-49664872	HL-60	blood:	n/a	chr10:49664675-49664688 chr10:49664635-49664648
7	MAX	chr10:49664476-49664772	K562	blood:	n/a	n/a
8	SPI1	chr10:49664443-49665051	HL-60	blood:	n/a	chr10:49664675-49664688 chr10:49664635-49664648 chr10:49664950-49664963
9	ZNF384	chr10:49664495-49664632	K562	blood:	n/a	n/a
10	CTCF	chr10:49664580-49664730	HCPEpiC	choroid plexus:	n/a	n/a
11	MAFK	chr10:49664330-49664666	K562	blood:	n/a	n/a
12	POLR2A	chr10:49664328-49664861	K562	blood:	n/a	n/a
13	ELF1	chr10:49664449-49664811	K562	blood:	n/a	n/a
14	NR2F2	chr10:49664240-49665046	K562	blood:	n/a	n/a
15	EP300	chr10:49664500-49664910	K562	blood:	n/a	n/a
16	MYC	chr10:49664449-49665051	K562	blood:	n/a	n/a
17	NFIC	chr10:49664424-49664858	ECC-1	luminal epithelium:	n/a	chr10:49664655-49664672
18	ELF1	chr10:49664506-49664868	K562	blood:	n/a	n/a
19	ZMIZ1	chr10:49664435-49664775	K562	blood:	n/a	n/a
20	CUX1	chr10:49664569-49664796	K562	blood:	n/a	n/a
21	SMC3	chr10:49664542-49664798	K562	blood:	n/a	chr10:49664636-49664646
22	GTF2F1	chr10:49664482-49664823	K562	blood:	n/a	n/a
23	MAX	chr10:49664448-49664945	NB4	blood:	n/a	n/a
24	SPI1	chr10:49664499-49664811	GM12878	blood:	n/a	chr10:49664675-49664688 chr10:49664635-49664648
25	HEY1	chr10:49664584-49664808	K562	blood:	n/a	n/a
26	POLR2A	chr10:49664373-49664977	HL-60	blood:	n/a	n/a
27	SPI1	chr10:49664505-49664799	K562	blood:	n/a	chr10:49664675-49664688 chr10:49664635-49664648
28	CBX3	chr10:49664430-49664861	K562	blood:	n/a	n/a
29	POLR2A	chr10:49664348-49665469	K562	blood:	n/a	n/a
30	ZBTB7A	chr10:49664468-49664874	K562	blood:	n/a	n/a
31	MYC	chr10:49664412-49664945	NB4	blood:	n/a	n/a
32	CCNT2	chr10:49664492-49665098	K562	blood:	n/a	chr10:49665072-49665081
33	ZNF143	chr10:49664576-49664900	K562	blood:	n/a	chr10:49664639-49664657
34	POLR2A	chr10:49664487-49664792	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr10:49664462-49664808	K562	blood:	n/a	n/a
36	MYC	chr10:49664479-49665081	K562	blood:	n/a	chr10:49665060-49665070
37	YY1	chr10:49664514-49664733	K562	blood:	n/a	n/a
38	HMGN3	chr10:49664396-49665686	K562	blood:	n/a	n/a
39	POLR2A	chr10:49664416-49664864	K562	blood:	n/a	n/a
40	HCFC1	chr10:49664464-49664818	K562	blood:	n/a	n/a
41	RCOR1	chr10:49664374-49664748	K562	blood:	n/a	n/a
42	SPI1	chr10:49664452-49664830	K562	blood:	n/a	chr10:49664675-49664688 chr10:49664635-49664648
43	MAZ	chr10:49664439-49665430	K562	blood:	n/a	chr10:49665219-49665228 chr10:49665215-49665225 chr10:49665060-49665070
44	UBTF	chr10:49664546-49664800	K562	blood:	n/a	n/a
45	TBL1XR1	chr10:49664527-49664851	K562	blood:	n/a	n/a
46	CHD2	chr10:49664319-49665113	K562	blood:	n/a	n/a
47	SPI1	chr10:49664436-49664888	GM12878	blood:	n/a	chr10:49664675-49664688 chr10:49664635-49664648
48	RAD21	chr10:49664569-49664763	K562	blood:	n/a	n/a
49	TBL1XR1	chr10:49664492-49664778	K562	blood:	n/a	n/a
50	SPI1	chr10:49664530-49664789	GM12891	blood:	n/a	chr10:49664675-49664688 chr10:49664635-49664648

No.	Distal block	Cell Line	Cell type
1	chr10:49657927..49660401-chr10:49664471..49666357,2	MCF-7	breast:
2	chr10:49613029..49615967-chr10:49663530..49666398,2	K562	blood:
3	chr10:49663675..49666041-chr10:49714852..49717938,4	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1051507	0.82[ASN][1000 genomes]
rs1051508	0.81[ASN][1000 genomes]
rs1051509	0.81[ASN][1000 genomes]
rs11101325	0.87[ASN][1000 genomes]
rs11101332	0.81[ASN][1000 genomes]
rs2017750	0.82[ASN][1000 genomes]
rs2289805	0.86[EUR][1000 genomes]
rs3789320	0.82[ASN][1000 genomes]
rs3827681	0.84[ASN][1000 genomes]
rs4838593	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49624600-49664800	Weak transcription	Gastric	stomach
2	chr10:49652000-49673000	Weak transcription	HMEC	breast
3	chr10:49653000-49673600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr10:49653600-49664600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:49655200-49677800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:49657800-49677600	Weak transcription	HSMMtube	muscle
7	chr10:49660400-49665400	Enhancers	Ovary	ovary
8	chr10:49661200-49669200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:49661400-49667600	Weak transcription	HSMM	muscle
10	chr10:49661600-49665600	Enhancers	Fetal Lung	lung
11	chr10:49661800-49665800	Enhancers	Fetal Heart	heart
12	chr10:49661800-49666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:49661800-49668600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:49662000-49667400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:49662200-49671800	Weak transcription	Aorta	Aorta
16	chr10:49662400-49665200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr10:49662400-49665400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr10:49662400-49665600	Enhancers	Fetal Muscle Leg	muscle
19	chr10:49662400-49672400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:49662600-49664600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:49662600-49665000	Enhancers	Lung	lung
22	chr10:49662600-49667400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:49662600-49671800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr10:49662800-49666600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:49663000-49665600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr10:49663000-49665600	Bivalent Enhancer	Placenta	Placenta
27	chr10:49663000-49665800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr10:49663200-49668000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:49663400-49666400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:49663400-49667800	Enhancers	Primary hematopoietic stem cells	blood
31	chr10:49663400-49668000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:49663600-49666600	Enhancers	Fetal Thymus	thymus
33	chr10:49663800-49664600	Enhancers	Duodenum Mucosa	Duodenum
34	chr10:49663800-49665800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr10:49664000-49664600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr10:49664000-49664800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr10:49664000-49665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:49664000-49665800	Enhancers	Brain Hippocampus Middle	brain
39	chr10:49664000-49665800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr10:49664200-49664600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr10:49664200-49664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:49664200-49664600	Enhancers	Colon Smooth Muscle	Colon
43	chr10:49664200-49664600	Enhancers	Fetal Brain Male	brain
44	chr10:49664200-49664800	Enhancers	Adipose Nuclei	Adipose
45	chr10:49664200-49664800	Flanking Active TSS	K562	blood
46	chr10:49664200-49665200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr10:49664200-49665200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:49664200-49665200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:49664200-49665400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:49664200-49665400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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