Variant report

Variant	rs6048777
Chromosome Location	chr20:23373302-23373303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23370019..23371821-chr20:23372908..23375438,2	MCF-7	breast:
2	chr20:23369812..23371828-chr20:23372663..23375107,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1003417	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2281430	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2405231	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424529	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424533	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424538	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424543	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424547	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424553	0.88[EUR][1000 genomes]
rs6048797	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6076065	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083105	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs743021	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs999072	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6048777	NAPB	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:23348000-23374200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr20:23348200-23384800	Weak transcription	Stomach Mucosa	stomach
4	chr20:23351200-23374000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:23351400-23374000	Weak transcription	Fetal Brain Male	brain
6	chr20:23352800-23376400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr20:23353000-23378200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr20:23353400-23374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr20:23354400-23389000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr20:23354400-23399800	Weak transcription	Hela-S3	cervix
11	chr20:23354600-23374200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr20:23354600-23375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr20:23354800-23373600	Weak transcription	Colonic Mucosa	Colon
14	chr20:23356600-23374200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr20:23358000-23373600	Weak transcription	Right Ventricle	heart
16	chr20:23358000-23374400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr20:23358200-23373600	Weak transcription	Brain Angular Gyrus	brain
18	chr20:23358200-23377800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr20:23360200-23373600	Weak transcription	NHLF	lung
20	chr20:23361200-23399600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:23363000-23374400	Weak transcription	Psoas Muscle	Psoas
22	chr20:23363000-23375000	Weak transcription	Fetal Heart	heart
23	chr20:23364800-23378000	Strong transcription	Primary T cells from cord blood	blood
24	chr20:23365400-23376200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr20:23365800-23376000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr20:23366400-23377600	Weak transcription	Right Atrium	heart
27	chr20:23366800-23376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:23366800-23382400	Strong transcription	Dnd41	blood
29	chr20:23367000-23377000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr20:23367000-23378200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:23367200-23376000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr20:23367200-23376000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:23367200-23377600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr20:23367400-23373400	Weak transcription	Brain Hippocampus Middle	brain
35	chr20:23367600-23376400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:23367800-23376000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr20:23367800-23380400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr20:23368000-23373400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr20:23368000-23376200	Strong transcription	Fetal Intestine Large	intestine
40	chr20:23368000-23376400	Strong transcription	Liver	Liver
41	chr20:23368200-23375400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr20:23368200-23376200	Strong transcription	HepG2	liver
43	chr20:23368400-23375800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr20:23368400-23376200	Strong transcription	Brain Anterior Caudate	brain
45	chr20:23368400-23376200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr20:23368400-23376600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr20:23368400-23376800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr20:23368400-23376800	Strong transcription	Adipose Nuclei	Adipose
49	chr20:23368600-23373600	Weak transcription	Small Intestine	intestine
50	chr20:23368600-23375600	Strong transcription	Fetal Thymus	thymus

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