Variant report

Variant	rs12469450
Chromosome Location	chr2:114681208-114681209
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	ZNF384	chr2:114681105-114681778	GM12878	blood:	n/a	n/a
2	MXI1	chr2:114681134-114681574	GM12878	blood:	n/a	n/a
3	ATF2	chr2:114681096-114681637	GM12878	blood:	n/a	n/a
4	REST	chr2:114681190-114681450	Hela-S3	cervix:	n/a	n/a
5	NFATC1	chr2:114681104-114681687	GM12878	blood:	n/a	n/a
6	RUNX3	chr2:114681112-114681664	GM12878	blood:	n/a	chr2:114681408-114681423
7	IRF4	chr2:114681112-114681606	GM12878	blood:	n/a	n/a
8	SP1	chr2:114681177-114681559	GM12878	blood:	n/a	n/a
9	RCOR1	chr2:114681185-114681599	GM12878	blood:	n/a	n/a
10	FOXM1	chr2:114681042-114681593	GM12878	blood:	n/a	n/a
11	CUX1	chr2:114681206-114681568	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:114681094-114681542	GM12892	blood:	n/a	n/a
13	STAT5A	chr2:114681108-114681615	GM12878	blood:	n/a	chr2:114681464-114681472 chr2:114681428-114681439 chr2:114681296-114681307
14	IRF4	chr2:114681114-114681586	GM12878	blood:	n/a	n/a
15	SPI1	chr2:114681147-114681497	GM12878	blood:	n/a	chr2:114681301-114681314 chr2:114681430-114681439
16	NFIC	chr2:114681028-114681683	GM12878	blood:	n/a	n/a
17	EP300	chr2:114681103-114681631	GM12878	blood:	n/a	chr2:114681315-114681329 chr2:114681298-114681312
18	EBF1	chr2:114681158-114681485	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:114679178-114682100	GM12878	blood:	n/a	n/a
20	EP300	chr2:114681110-114681567	GM12878	blood:	n/a	chr2:114681315-114681329 chr2:114681298-114681312
21	SPI1	chr2:114680836-114681901	GM12878	blood:	n/a	chr2:114681301-114681314 chr2:114681430-114681439
22	EBF1	chr2:114681124-114681500	GM12878	blood:	n/a	n/a
23	MTA3	chr2:114681175-114681621	GM12878	blood:	n/a	n/a
24	EP300	chr2:114681150-114681585	GM12878	blood:	n/a	chr2:114681315-114681329 chr2:114681298-114681312
25	POLR2A	chr2:114681131-114682600	GM12878	blood:	n/a	n/a
26	BCLAF1	chr2:114681097-114681611	GM12878	blood:	n/a	chr2:114681298-114681307 chr2:114681430-114681439
27	NFIC	chr2:114681045-114681716	GM12878	blood:	n/a	n/a
28	NFATC1	chr2:114681173-114681743	GM12878	blood:	n/a	n/a
29	BCL3	chr2:114681167-114681506	GM12878	blood:	n/a	chr2:114681298-114681307 chr2:114681430-114681439
30	PAX5	chr2:114681092-114681529	GM12878	blood:	n/a	chr2:114681321-114681330 chr2:114681430-114681439 chr2:114681298-114681307
31	CREB1	chr2:114681151-114681554	GM12878	blood:	n/a	n/a
32	SPI1	chr2:114681167-114681593	GM12878	blood:	n/a	chr2:114681301-114681314 chr2:114681430-114681439
33	BHLHE40	chr2:114681138-114681586	GM12878	blood:	n/a	n/a
34	SPI1	chr2:114681162-114681608	GM12891	blood:	n/a	chr2:114681301-114681314 chr2:114681430-114681439
35	SPI1	chr2:114681184-114681452	HL-60	blood:	n/a	chr2:114681301-114681314 chr2:114681430-114681439
36	EBF1	chr2:114681118-114681504	GM12878	blood:	n/a	n/a
37	ZNF143	chr2:114681199-114681436	GM12878	blood:	n/a	n/a
38	ATF2	chr2:114681176-114681696	GM12878	blood:	n/a	n/a
39	BCL11A	chr2:114681119-114681532	GM12878	blood:	n/a	chr2:114681298-114681307 chr2:114681430-114681439
40	MEF2A	chr2:114681133-114681564	GM12878	blood:	n/a	chr2:114681501-114681518 chr2:114681432-114681440
41	TBL1XR1	chr2:114681152-114681559	GM12878	blood:	n/a	n/a
42	SPI1	chr2:114681163-114681611	GM12891	blood:	n/a	chr2:114681301-114681314 chr2:114681430-114681439
43	RUNX3	chr2:114681155-114681627	GM12878	blood:	n/a	chr2:114681408-114681423
44	MTA3	chr2:114681090-114681667	GM12878	blood:	n/a	n/a
45	STAT5A	chr2:114681133-114681534	GM12878	blood:	n/a	chr2:114681464-114681472 chr2:114681428-114681439 chr2:114681296-114681307

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114660896..114663334-chr2:114680597..114683237,2	K562	blood:
2	chr2:114679751..114681557-chr2:114683882..114686191,2	K562	blood:

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10496455	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11123219	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890157	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11899049	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12469844	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12473069	0.84[EUR][1000 genomes]
rs12478153	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791736	0.94[AFR][1000 genomes]
rs3791738	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3916120	0.84[EUR][1000 genomes]
rs56021927	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56114409	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56351059	0.84[EUR][1000 genomes]
rs59357342	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6734273	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6735675	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6743651	0.87[AFR][1000 genomes]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
2	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:114658000-114689400	Weak transcription	Fetal Heart	heart
5	chr2:114661200-114683800	Weak transcription	Colonic Mucosa	Colon
6	chr2:114662800-114690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:114665400-114692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:114667400-114700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:114667800-114705000	Weak transcription	Esophagus	oesophagus
10	chr2:114668000-114690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:114668200-114692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:114668200-114695800	Weak transcription	Psoas Muscle	Psoas
13	chr2:114668200-114704800	Weak transcription	Gastric	stomach
14	chr2:114668400-114696200	Weak transcription	Small Intestine	intestine
15	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
16	chr2:114668600-114692800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:114668800-114703200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:114669000-114686400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:114669200-114686400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:114669400-114693400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:114670800-114693000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:114670800-114717400	Strong transcription	Fetal Thymus	thymus
23	chr2:114670800-114719000	Strong transcription	Dnd41	blood
24	chr2:114671000-114684600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:114671000-114695000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:114671000-114704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:114671000-114720000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:114671200-114692800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:114671200-114694000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:114672400-114682200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:114673000-114703000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:114674400-114715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:114675000-114691600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:114675800-114684600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:114675800-114685600	Weak transcription	Brain Anterior Caudate	brain
37	chr2:114675800-114686000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:114676000-114685800	Weak transcription	Fetal Brain Female	brain
39	chr2:114676000-114706200	Weak transcription	Hela-S3	cervix
40	chr2:114676200-114681600	Weak transcription	Thymus	Thymus
41	chr2:114676200-114681600	Weak transcription	HSMMtube	muscle
42	chr2:114676200-114682400	Weak transcription	Lung	lung
43	chr2:114676200-114685800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:114676200-114686000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:114676200-114686400	Weak transcription	Aorta	Aorta
46	chr2:114676200-114686800	Weak transcription	Ovary	ovary
47	chr2:114676200-114696200	Weak transcription	Pancreas	Pancrea
48	chr2:114676200-114704800	Weak transcription	Spleen	Spleen
49	chr2:114676400-114686000	Weak transcription	Left Ventricle	heart
50	chr2:114676400-114686000	Weak transcription	Rectal Smooth Muscle	rectum

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