Variant report

Variant	rs12081589
Chromosome Location	chr1:56981625-56981626
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	CEBPB	chr1:56981607-56981898	A549	lung:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776
2	POLR2A	chr1:56981456-56985428	PFSK-1	brain:	n/a	n/a
3	CEBPB	chr1:56981518-56982031	K562	blood:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776
4	CCNT2	chr1:56981309-56982433	K562	blood:	n/a	n/a
5	CEBPB	chr1:56981599-56981908	MCF-7	breast:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776
6	CEBPB	chr1:56981570-56982895	K562	blood:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776
7	POLR2A	chr1:56980412-56984262	HepG2	liver:	n/a	n/a
8	JUND	chr1:56981492-56983814	K562	blood:	n/a	chr1:56983596-56983608 chr1:56982084-56982093 chr1:56983597-56983607 chr1:56982703-56982712 chr1:56983598-56983606 chr1:56983597-56983607
9	CEBPB	chr1:56981590-56981926	IMR90	lung:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776
10	GATA2	chr1:56981186-56981630	SH-SY5Y	brain:	n/a	n/a
11	CEBPB	chr1:56981608-56981874	K562	blood:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776
12	GATA3	chr1:56981379-56982342	MCF-7	breast:	n/a	chr1:56981798-56981805 chr1:56982246-56982255 chr1:56982245-56982255
13	RCOR1	chr1:56981263-56983744	K562	blood:	n/a	n/a
14	CEBPB	chr1:56981593-56981940	HepG2	liver:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776
15	GATA2	chr1:56980688-56981804	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr1:56981235-56982529	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr1:56981538-56982198	MCF-7	breast:	n/a	n/a
18	CEBPB	chr1:56981616-56981920	H1-hESC	embryonic stem cell:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776

Variant related genes	Relation type
PPAP2B	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157636	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10888977	0.81[JPT][hapmap]
rs10888979	0.85[ASW][hapmap]
rs11206839	0.92[ASW][hapmap];0.80[YRI][hapmap]
rs11206841	0.92[ASW][hapmap];0.80[YRI][hapmap]
rs11583161	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs11590570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[ASN][1000 genomes]
rs12084507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1759752	0.81[JPT][hapmap]
rs4912314	0.95[JPT][hapmap]
rs57966457	0.94[ASN][1000 genomes]
rs58289463	0.99[ASN][1000 genomes]
rs60314060	0.94[ASN][1000 genomes]
rs6690245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72664330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512545	0.84[ASW][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs7515808	0.95[JPT][hapmap]
rs7519268	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[ASN][1000 genomes]
rs7549894	0.86[ASN][1000 genomes]
rs7554557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56971400-56986200	Genic enhancers	Placenta	Placenta
3	chr1:56972400-56990800	Strong transcription	HSMM	muscle
4	chr1:56972600-56981800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:56974600-56982400	Strong transcription	Osteobl	bone
6	chr1:56975000-56981800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:56975000-56981800	Weak transcription	NHEK	skin
8	chr1:56975000-56982000	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr1:56976000-56982600	Genic enhancers	Liver	Liver
10	chr1:56976200-56982600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:56976400-56982200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
13	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
14	chr1:56977200-56982200	Weak transcription	Fetal Heart	heart
15	chr1:56977200-56982400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:56977200-56987200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:56977200-56990600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:56977400-56981800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:56977400-56982000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:56977400-56982400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:56977600-56983600	Strong transcription	NHLF	lung
22	chr1:56977800-56982400	Weak transcription	NH-A	brain
23	chr1:56977800-56983200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:56977800-56989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:56977800-56991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:56977800-56999200	Weak transcription	A549	lung
27	chr1:56978000-56982400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:56978000-56982400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:56978000-56987200	Weak transcription	Thymus	Thymus
30	chr1:56978000-56987600	Weak transcription	Dnd41	blood
31	chr1:56978000-56987800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:56978000-56989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:56978000-56991400	Weak transcription	Fetal Brain Male	brain
34	chr1:56978000-56992600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:56978200-56982000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:56978200-56982000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:56979200-56981800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:56979200-56984800	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:56979200-56984800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:56979200-56992600	Strong transcription	HepG2	liver
41	chr1:56979800-56982400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:56979800-56986200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:56980000-56982000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:56980000-56983200	Enhancers	Right Atrium	heart
45	chr1:56980000-56984200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:56980000-56984200	Enhancers	Spleen	Spleen
47	chr1:56980200-56983800	Genic enhancers	Fetal Intestine Large	intestine
48	chr1:56980400-56981800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:56980400-56981800	Enhancers	K562	blood
50	chr1:56980400-56982400	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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