Variant report

Variant	rs62169935
Chromosome Location	chr2:114719451-114719452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114719034..114722031-chr2:114739045..114742914,3	K562	blood:
2	chr2:114718968..114721706-chr2:114724890..114726675,2	MCF-7	breast:
3	chr2:114714504..114716688-chr2:114718295..114720604,2	K562	blood:
4	chr2:114710094..114711619-chr2:114718178..114719858,2	K562	blood:
5	chr2:114511724..114513896-chr2:114718190..114720983,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11123214	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11684182	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11685654	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1403401	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17197632	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849294	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849296	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169889	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62169929	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62171768	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62171769	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6542180	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6642	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835479	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7576537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7579001	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs62169935	RPL23AP7	cis	Artery Tibial	GTEx
rs62169935	SLC35F5	cis	Thyroid	GTEx
rs62169935	RPL23AP7	cis	Whole Blood	GTEx
rs62169935	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs62169935	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs62169935	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
3	chr2:114671000-114720000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:114676600-114719800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:114680400-114721200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:114681800-114722600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:114682600-114723400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:114682600-114725000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:114683400-114719800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:114683400-114720000	Strong transcription	NHDF-Ad	bronchial
12	chr2:114691800-114719800	Strong transcription	HSMM	muscle
13	chr2:114693200-114720000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:114695200-114720200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:114696000-114720200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:114701600-114720200	Weak transcription	Fetal Heart	heart
17	chr2:114703600-114719800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:114703600-114720000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:114703600-114722400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:114705000-114720400	Weak transcription	Psoas Muscle	Psoas
21	chr2:114705200-114731200	Weak transcription	Lung	lung
22	chr2:114705200-114733000	Weak transcription	Pancreas	Pancrea
23	chr2:114705200-114734200	Weak transcription	Right Ventricle	heart
24	chr2:114705200-114736000	Weak transcription	Gastric	stomach
25	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
26	chr2:114706200-114723000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:114706200-114723600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:114706200-114723800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:114706200-114731400	Weak transcription	Aorta	Aorta
30	chr2:114706200-114731400	Weak transcription	Spleen	Spleen
31	chr2:114706400-114720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:114707400-114726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:114709200-114731200	Weak transcription	Fetal Kidney	kidney
34	chr2:114710400-114728000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
36	chr2:114710600-114725400	Weak transcription	Small Intestine	intestine
37	chr2:114710600-114727400	Weak transcription	Thymus	Thymus
38	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
39	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:114713400-114723600	Weak transcription	Brain Substantia Nigra	brain
41	chr2:114713600-114720400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:114713600-114732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:114713800-114724200	Weak transcription	Fetal Intestine Small	intestine
44	chr2:114713800-114731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:114713800-114732200	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:114713800-114734600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:114713800-114735200	Weak transcription	Ovary	ovary
48	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
49	chr2:114714400-114735200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:114714600-114719800	Weak transcription	Hela-S3	cervix

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