Variant report

Variant	rs12798486
Chromosome Location	chr11:121237583-121237584
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	RELA	chr11:121237574-121239789	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
BMPR1APS2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11218313	1.00[CHD][hapmap]
rs11600875	1.00[CHD][hapmap]
rs11826929	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805903	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17245976	1.00[CHD][hapmap]
rs2512090	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297488	1.00[ASN][1000 genomes]
rs34172324	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34266697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34561827	0.93[AMR][1000 genomes]
rs34571866	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34687160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35269930	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35556203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36176150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565910	0.81[AMR][1000 genomes]
rs55636130	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217499	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60870189	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61903106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61903107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61903131	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61903133	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129394	0.81[AMR][1000 genomes]
rs71486380	0.81[AMR][1000 genomes]
rs7928372	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12798486	POM121L2	trans	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121230800-121249800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:121231000-121238000	Weak transcription	Right Atrium	heart
3	chr11:121234800-121238200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:121235800-121238200	Enhancers	Fetal Brain Male	brain
5	chr11:121236000-121239400	Enhancers	Brain Germinal Matrix	brain
6	chr11:121236400-121238000	Enhancers	Fetal Lung	lung
7	chr11:121236600-121237800	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:121237000-121237600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:121237000-121237600	Enhancers	Dnd41	blood
10	chr11:121237000-121237800	Enhancers	GM12878-XiMat	blood
11	chr11:121237000-121239400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:121237000-121239800	Enhancers	Fetal Thymus	thymus
13	chr11:121237200-121238000	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:121237200-121238000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr11:121237200-121238000	Weak transcription	Fetal Brain Female	brain
16	chr11:121237200-121239200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:121237200-121239800	Enhancers	Fetal Kidney	kidney
18	chr11:121237200-121240000	Enhancers	Primary B cells from cord blood	blood
19	chr11:121237200-121240200	Enhancers	Ovary	ovary
20	chr11:121237400-121237600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:121237400-121238000	Enhancers	Brain Hippocampus Middle	brain
22	chr11:121237400-121238000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr11:121237400-121238200	Enhancers	Brain Substantia Nigra	brain
24	chr11:121237400-121238600	Enhancers	Sigmoid Colon	Sigmoid Colon

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