Variant report

Variant	rs10089053
Chromosome Location	chr8:49498033-49498034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49488476..49491307-chr8:49497335..49499324,2	MCF-7	breast:
2	chr8:49497691..49500433-chr8:49509810..49512564,2	MCF-7	breast:
3	chr8:49491543..49494342-chr8:49496600..49499222,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10090068	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12549932	1.00[AFR][1000 genomes]
rs1564579	1.00[ASW][hapmap]
rs2046235	1.00[ASW][hapmap];0.82[CEU][hapmap]
rs4424286	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs931765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10089053	SERPINA1	trans	lymphoblastoid	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49486600-49503200	Weak transcription	Esophagus	oesophagus
2	chr8:49495000-49504600	Enhancers	Fetal Muscle Leg	muscle
3	chr8:49495600-49498400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:49495600-49501400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:49495600-49519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:49495800-49501200	Weak transcription	Aorta	Aorta
7	chr8:49495800-49503000	Weak transcription	Right Ventricle	heart
8	chr8:49496000-49502600	Weak transcription	Right Atrium	heart
9	chr8:49496400-49501000	Weak transcription	NHLF	lung
10	chr8:49496400-49504000	Weak transcription	Left Ventricle	heart
11	chr8:49496600-49501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:49496600-49501000	Weak transcription	HSMM	muscle
13	chr8:49496600-49502000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:49496800-49500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:49496800-49500600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:49496800-49500600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:49496800-49500600	Weak transcription	Adipose Nuclei	Adipose
18	chr8:49496800-49500800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:49496800-49500800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:49496800-49501200	Weak transcription	NH-A	brain
21	chr8:49496800-49501200	Weak transcription	Osteobl	bone
22	chr8:49496800-49501400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:49496800-49501600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:49496800-49501600	Weak transcription	Ovary	ovary
25	chr8:49496800-49501800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:49496800-49502000	Weak transcription	Placenta	Placenta
27	chr8:49497000-49500400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:49497200-49501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:49497400-49499800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:49497400-49500200	Weak transcription	NHDF-Ad	bronchial
31	chr8:49497400-49500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:49497600-49500000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:49497600-49501800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:49497600-49502000	Weak transcription	Fetal Lung	lung
35	chr8:49497800-49506600	Weak transcription	Fetal Kidney	kidney

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