Variant report

Variant	rs34720246
Chromosome Location	chr12:8811050-8811051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12302099	0.87[EUR][1000 genomes]
rs12809190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12811351	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12812133	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12812856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12815106	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12817900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12822141	0.84[EUR][1000 genomes]
rs12824174	0.84[EUR][1000 genomes]
rs12827693	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12827867	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12827904	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12829580	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12833793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17802192	0.92[EUR][1000 genomes]
rs2377491	0.84[EUR][1000 genomes]
rs34716337	0.92[EUR][1000 genomes]
rs34817631	0.92[EUR][1000 genomes]
rs34976145	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34978963	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35253464	0.90[EUR][1000 genomes]
rs35337965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35365089	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35379247	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35565662	0.92[EUR][1000 genomes]
rs35701636	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35818804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35866343	0.91[EUR][1000 genomes]
rs35896395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56941823	0.95[EUR][1000 genomes]
rs6487313	0.84[EUR][1000 genomes]
rs71447526	0.91[EUR][1000 genomes]
rs71447527	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73244416	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34720246	FAM80B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8789600-8813400	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:8792600-8814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:8799200-8813600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:8808600-8811200	Weak transcription	HSMMtube	muscle
5	chr12:8809400-8813400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:8809800-8812200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:8810200-8811200	Enhancers	HSMM	muscle
8	chr12:8810200-8812000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:8810200-8813800	Enhancers	Placenta	Placenta
10	chr12:8810400-8811200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:8810400-8811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:8810400-8811400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:8810400-8811400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:8810400-8811600	Enhancers	HMEC	breast
15	chr12:8810400-8811600	Enhancers	Osteobl	bone
16	chr12:8810400-8812000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:8810400-8812200	Enhancers	NH-A	brain
18	chr12:8810600-8811400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:8810600-8811400	Enhancers	NHDF-Ad	bronchial
20	chr12:8810600-8811600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:8810600-8811600	Flanking Active TSS	Hela-S3	cervix
22	chr12:8810600-8812000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:8810600-8812200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:8810600-8813000	Enhancers	Adipose Nuclei	Adipose
25	chr12:8810800-8811400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:8811000-8811400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:8811000-8811400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:8811000-8811400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:8811000-8811600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:8811000-8811800	Enhancers	Thymus	Thymus
31	chr12:8811000-8812000	Enhancers	Fetal Thymus	thymus
32	chr12:8811000-8812200	Enhancers	NHEK	skin

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