Variant report

Variant	rs62169938
Chromosome Location	chr2:114729221-114729222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114727758..114729745-chr2:114737971..114739817,2	K562	blood:
2	chr2:114727885..114731158-chr2:114732543..114736928,5	K562	blood:
3	chr2:114725172..114726759-chr2:114728569..114731437,2	K562	blood:
4	chr2:114722980..114724600-chr2:114727124..114729506,2	K562	blood:
5	chr2:114513167..114514852-chr2:114727452..114729703,2	K562	blood:
6	chr2:114719759..114724600-chr2:114725495..114731130,7	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs11684387	0.81[ASN][1000 genomes]
rs17197611	0.84[ASN][1000 genomes]
rs17269808	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72835466	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72835476	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7605071	0.84[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs62169938	DDX11L2	cis	Esophagus Mucosa	GTEx
rs62169938	DDX11L2	cis	lung	GTEx
rs62169938	DDX11L2	cis	Whole Blood	GTEx
rs62169938	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs62169938	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs62169938	RPL23AP7	cis	Artery Tibial	GTEx
rs62169938	RPL23AP7	cis	Whole Blood	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

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	chr2:114705200-114731200	Weak transcription	Lung	lung
4	chr2:114705200-114733000	Weak transcription	Pancreas	Pancrea
5	chr2:114705200-114734200	Weak transcription	Right Ventricle	heart
6	chr2:114705200-114736000	Weak transcription	Gastric	stomach
7	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
8	chr2:114706200-114731400	Weak transcription	Aorta	Aorta
9	chr2:114706200-114731400	Weak transcription	Spleen	Spleen
10	chr2:114709200-114731200	Weak transcription	Fetal Kidney	kidney
11	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
12	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
13	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:114713600-114732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:114713800-114731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:114713800-114732200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:114713800-114734600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:114713800-114735200	Weak transcription	Ovary	ovary
19	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
20	chr2:114714400-114735200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:114714800-114732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:114715200-114735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:114715600-114732800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:114715600-114734800	Weak transcription	Left Ventricle	heart
26	chr2:114715600-114735400	Weak transcription	K562	blood
27	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:114717600-114729400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:114718600-114733000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:114718600-114735400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:114719400-114732400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:114719600-114729600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:114721200-114729800	Weak transcription	HMEC	breast
35	chr2:114721200-114733200	Weak transcription	NHEK	skin
36	chr2:114721200-114735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:114723400-114731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:114723600-114732800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:114724200-114729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:114724200-114735000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:114724200-114735200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:114724400-114729400	Weak transcription	NHLF	lung
43	chr2:114724400-114731000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:114724600-114735000	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:114724800-114729600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:114724800-114731600	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:114724800-114733000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:114724800-114734400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:114725000-114732600	Weak transcription	Liver	Liver
50	chr2:114725000-114734200	Strong transcription	HSMM	muscle

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