Variant report

Variant	rs12472250
Chromosome Location	chr2:114603899-114603900
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	KAP1	chr2:114603217-114603967	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114583209..114585291-chr2:114603367..114605594,2	K562	blood:
2	chr2:114596973..114598913-chr2:114602425..114605423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228857	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10175154	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10192513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210927	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10864924	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10864925	0.82[AMR][1000 genomes]
rs11123212	0.88[CEU][hapmap]
rs11886949	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11897814	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12472252	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12475444	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4292101	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56308039	0.82[EUR][1000 genomes]
rs72835420	0.82[EUR][1000 genomes]
rs72835422	0.84[EUR][1000 genomes]
rs7573285	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114596400-114621000	Weak transcription	Aorta	Aorta
2	chr2:114596600-114611600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:114596800-114632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:114597600-114631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:114601200-114606200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:114601200-114606800	Weak transcription	NHLF	lung
7	chr2:114601400-114612000	Weak transcription	Primary T cells from cord blood	blood
8	chr2:114601600-114606400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:114601800-114604600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:114601800-114606200	Weak transcription	NHEK	skin
11	chr2:114601800-114606400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:114601800-114606400	Weak transcription	Osteobl	bone
13	chr2:114602000-114604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:114602200-114604200	Weak transcription	HMEC	breast
15	chr2:114602400-114604000	Weak transcription	NHDF-Ad	bronchial
16	chr2:114602800-114626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:114603600-114607200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:114603800-114608200	Weak transcription	Fetal Lung	lung
19	chr2:114603800-114616000	Weak transcription	Spleen	Spleen
20	chr2:114603800-114631200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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